{"id":3692,"date":"2025-08-26T03:14:34","date_gmt":"2025-08-26T03:14:34","guid":{"rendered":"https:\/\/oligox.abtvn.com\/?p=3692"},"modified":"2025-08-26T09:36:27","modified_gmt":"2025-08-26T09:36:27","slug":"pannel-ung-dung-trong-chan-doan-thalassemia","status":"publish","type":"post","link":"https:\/\/oligox.abtvn.com\/en\/pannel-ung-dung-trong-chan-doan-thalassemia\/","title":{"rendered":"Pannel \u1ee9ng d\u1ee5ng trong ch\u1ea9n \u0111o\u00e1n Thalassemia"},"content":{"rendered":"<h2 class=\"wp-block-heading\" style=\"font-size:32px\"><strong>T\u1ed5ng quan Thalassemia<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Gi\u1edbi thi\u1ec7u Thalassemia<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Thalassemia (hay c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi v\u1edbi t\u00ean b\u1ec7nh tan m\u00e1u b\u1ea9m sinh) l\u00e0 m\u1ed9t b\u1ec7nh l\u00fd huy\u1ebft h\u1ecdc di truy\u1ec1n c\u00f3 t\u1ef7 l\u1ec7 l\u01b0u h\u00e0nh cao tr\u00ean to\u00e0n c\u1ea7u v\u00e0 l\u00e0 m\u1ed9t v\u1ea5n \u0111\u1ec1 y t\u1ebf c\u00f4ng c\u1ed9ng quan tr\u1ecdng, \u0111\u1eb7c bi\u1ec7t \u1edf c\u00e1c v\u00f9ng l\u01b0u h\u00e0nh b\u1ec7nh nh\u01b0 \u0110\u1ecba Trung H\u1ea3i, \u0110\u00f4ng Nam \u00c1, Trung \u0110\u00f4ng v\u00e0 Ch\u00e2u Phi.<sup>1<\/sup> Nguy\u00ean nh\u00e2n c\u1ed1t l\u00f5i g\u00e2y ra b\u1ec7nh Thalassemia n\u1eb1m \u1edf s\u1ef1 b\u1ea5t th\u01b0\u1eddng trong qu\u00e1 tr\u00ecnh t\u1ed5ng h\u1ee3p hemoglobin \u2013 m\u1ed9t lo\u1ea1i protein ph\u1ee9c t\u1ea1p c\u00f3 trong t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u, \u0111\u00f3ng vai tr\u00f2 v\u1eadn chuy\u1ec3n oxy \u0111i kh\u1eafp c\u01a1 th\u1ec3.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u1ede ng\u01b0\u1eddi tr\u01b0\u1edfng th\u00e0nh hemoglobin \u0111\u01b0\u1ee3c c\u1ea5u t\u1ea1o t\u1eeb <strong>hai chu\u1ed7i alpha (\u03b1) globin<\/strong> v\u00e0 <strong>hai chu\u1ed7i beta (\u03b2) globin<\/strong>. S\u1ef1 t\u1ed5ng h\u1ee3p c\u00e1c chu\u1ed7i globin n\u00e0y \u0111\u01b0\u1ee3c ki\u1ec3m so\u00e1t b\u1edfi c\u00e1c gene n\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3, c\u1ee5 th\u1ec3 nh\u01b0 sau:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Gene \u03b1 globin:<\/strong> N\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 16 (gene <em>HBA1<\/em> v\u00e0 <em>HBA2<\/em>). M\u1ed7i ng\u01b0\u1eddi c\u00f3 b\u1ed1n gene \u03b1 globin (hai gene t\u1eeb b\u1ed1 v\u00e0 hai gene t\u1eeb m\u1eb9).<\/li>\n\n\n\n<li><strong>Gene \u03b2 globin:<\/strong> N\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11 (gene <em>HBB<\/em><em>)<\/em>. M\u1ed7i ng\u01b0\u1eddi c\u00f3 hai gene \u03b2 globin (m\u1ed9t gene t\u1eeb b\u1ed1 v\u00e0 m\u1ed9t gene t\u1eeb m\u1eb9).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t \u0111o\u1ea1n \u1edf m\u1ed9t ho\u1eb7c nhi\u1ec1u gene n\u00e0y s\u1ebd d\u1eabn \u0111\u1ebfn gi\u1ea3m ho\u1eb7c kh\u00f4ng s\u1ea3n xu\u1ea5t \u0111\u01b0\u1ee3c chu\u1ed7i globin t\u01b0\u01a1ng \u1ee9ng, g\u00e2y ra b\u1ec7nh Thalassemia.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" width=\"742\" height=\"388\" src=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image.jpg\" alt=\"H\u00ecnh 1. C\u1ea5u tr\u00fac c\u1ee7a hemoglobin\" class=\"wp-image-3693\" style=\"width:572px;height:auto\" srcset=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image.jpg 742w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-300x157.jpg 300w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-18x9.jpg 18w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-600x314.jpg 600w\" sizes=\"(max-width: 742px) 100vw, 742px\" \/><figcaption class=\"wp-element-caption\"><em><strong>H\u00ecnh 1.<\/strong> C\u1ea5u tr\u00fac c\u1ee7a hemoglobin<\/em><\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><strong><strong>C\u01a1 ch\u1ebf sinh b\u1ec7nh v\u00e0 ph\u00e2n lo\u1ea1i b\u1ec7nh c\u1ee7a Thalassemia<\/strong><\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">C\u01a1 ch\u1ebf b\u1ec7nh sinh c\u1ed1t l\u00f5i c\u1ee7a Thalassemia l\u00e0 s\u1ef1 m\u1ea5t c\u00e2n b\u1eb1ng, trong vi\u1ec7c s\u1ea3n xu\u1ea5t chu\u1ed7i \u03b1-globin v\u00e0 \u03b2-globin. S\u1ef1 m\u1ea5t c\u00e2n b\u1eb1ng n\u00e0y d\u1eabn \u0111\u1ebfn t\u00ecnh tr\u1ea1ng t\u1ea1o h\u1ed3ng c\u1ea7u kh\u00f4ng hi\u1ec7u qu\u1ea3 (ineffective erythropoiesis), tan m\u00e1u (hemolysis), thi\u1ebfu m\u00e1u m\u1ea1n t\u00ednh v\u00e0 c\u00e1c bi\u1ebfn ch\u1ee9ng li\u00ean quan nh\u01b0 qu\u00e1 t\u1ea3i s\u1eaft v\u00e0 bi\u1ebfn d\u1ea1ng x\u01b0\u01a1ng.<sup>1 <\/sup><sup><\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nguy\u00ean nh\u00e2n c\u1ed1t l\u00f5i c\u1ee7a qu\u00e1 tr\u00ecnh m\u1ea5t c\u00e2n b\u1eb1ng n\u00e0y l\u00e0 do \u0111\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t \u0111o\u1ea1n gen quy \u0111\u1ecbnh t\u1ed5ng h\u1ee3p chu\u1ed7i alpha (\u03b1) globin ho\u1eb7c chu\u1ed7i beta (\u03b2) globin. &nbsp;Do \u0111\u00f3, B\u1ec7nh Thalassemia ch\u1ee7 y\u1ebfu \u0111\u01b0\u1ee3c ph\u00e2n lo\u1ea1i th\u00e0nh 2 lo\u1ea1i ch\u00ednh l\u00e0: \u03b1-thalassemia v\u00e0 \u03b2-thalassemia.<sup>1<\/sup> C\u1ee5 th\u1ec3 nh\u01b0 sau:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u03b2-thalassemia<\/strong>: s\u1ef1 thi\u1ebfu h\u1ee5t chu\u1ed7i \u03b2-globin d\u1eabn \u0111\u1ebfn d\u01b0 th\u1eeba chu\u1ed7i \u03b1-globin. C\u00e1c chu\u1ed7i \u03b1-globin d\u01b0 th\u1eeba n\u00e0y kh\u00f4ng h\u00f2a tan, k\u1ebft t\u1ee7a trong c\u00e1c ti\u1ec1n th\u00e2n h\u1ed3ng c\u1ea7u, g\u00e2y ra hi\u1ec7n t\u01b0\u1ee3ng ch\u1ebft t\u1ebf b\u00e0o theo ch\u01b0\u01a1ng tr\u00ecnh (apotosis) v\u00e0 t\u1ea1o h\u1ed3ng c\u1ea7u kh\u00f4ng hi\u1ec7u qu\u1ea3.<sup>1<\/sup> <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0110\u1ed1i v\u1edbi <strong>\u03b1-thalassemia<\/strong>: s\u1ef1 thi\u1ebfu h\u1ee5t chu\u1ed7i \u03b1-globin d\u1eabn \u0111\u1ebfn d\u01b0 th\u1eeba c\u00e1c chu\u1ed7i kh\u00f4ng ph\u1ea3i \u03b1 (\u03b3 trong \u0111\u1eddi s\u1ed1ng b\u00e0o thai v\u00e0 \u03b2 sau sinh), h\u00ecnh th\u00e0nh c\u00e1c tetramer b\u1ea5t th\u01b0\u1eddng nh\u01b0 Hb Bart&#8217;s (\u03b34) v\u00e0 HbH (\u03b24).<sup>1<\/sup><\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img decoding=\"async\" width=\"975\" height=\"561\" src=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image.png\" alt=\"H\u00ecnh 2. Ph\u00e2n lo\u1ea1i b\u1ec7nh Thalassemia bao g\u1ed3m: a-Thalassemia v\u00e0 b-Thalassemia\" class=\"wp-image-3694\" style=\"width:601px;height:auto\" srcset=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image.png 975w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-300x173.png 300w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-768x442.png 768w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-18x10.png 18w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-600x345.png 600w\" sizes=\"(max-width: 975px) 100vw, 975px\" \/><figcaption class=\"wp-element-caption\"><em><strong>H\u00ecnh 2. <\/strong>Ph\u00e2n lo\u1ea1i b\u1ec7nh Thalassemia bao g\u1ed3m: \u03b1-Thalassemia v\u00e0 \u03b2-Thalassemia<\/em><\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><strong><strong><strong>M\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n c\u1ee7a Thalassemia<\/strong><\/strong><\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">M\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n (m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng) c\u1ee7a b\u1ec7nh thalassemia ch\u1ee7 y\u1ebfu ph\u1ee5 thu\u1ed9c v\u00e0o s\u1ed1 l\u01b0\u1ee3ng v\u00e0 lo\u1ea1i gen globin b\u1ecb \u0111\u1ed9t bi\u1ebfn, c\u0169ng nh\u01b0 b\u1ea3n ch\u1ea5t c\u1ee7a \u0111\u1ed9t bi\u1ebfn \u0111\u00f3. Nh\u00ecn chung, c\u00f3 nhi\u1ec1u lo\u1ea1i \u0111\u1ed9t bi\u1ebfn c\u00f3 th\u1ec3 x\u1ea3y ra trong Thalamessia nh\u01b0ng ch\u1ee7 y\u1ebfu \u0111\u01b0\u1ee3c chia th\u00e0nh 2 nh\u00f3m \u0111\u1ed9t bi\u1ebfn bao g\u1ed3m: <strong>(1) \u0110\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n<\/strong> v\u00e0 <strong>(2) \u0110\u1ed9t bi\u1ebfn \u0111i\u1ec3m<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Trong \u0111\u00f3:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>(1) \u0110\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n <\/strong>l\u00e0 lo\u1ea1i \u0111\u1ed9t bi\u1ebfn ph\u1ed5 bi\u1ebfn, \u0111\u1eb7c bi\u1ec7t trong\u00a0 \u03b1-Thalassemia. C\u00e1c \u0111\u1ed9t bi\u1ebfn n\u00e0y li\u00ean quan \u0111\u1ebfn vi\u1ec7c m\u1ea5t m\u1ed9t \u0111o\u1ea1n c\u1ee7a gen ho\u1eb7c to\u00e0n b\u1ed9 gen, d\u1eabn \u0111\u1ebfn kh\u00f4ng s\u1ea3n xu\u1ea5t \u0111\u01b0\u1ee3c ho\u1eb7c gi\u1ea3m s\u1ea3n xu\u1ea5t chu\u1ed7i globin t\u01b0\u01a1ng \u1ee9ng.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Trong \u03b1-Thalassemia: <\/strong>M\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng ph\u1ee5 thu\u1ed9c v\u00e0o lo\u1ea1i \u0111\u1ed9t bi\u1ebfn v\u00e0 s\u1ed1 l\u01b0\u1ee3ng gen \u03b1-globin b\u1ecb \u0111\u1ed9t bi\u1ebfn (trong t\u1ed5ng s\u1ed1 4 gen alpha globin) nh\u01b0 b\u1ea3ng v\u00e0 h\u00ecnh m\u00ecnh h\u1ecda d\u01b0\u1edbi \u0111\u00e2y.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>B\u1ea3ng 1. C\u00e1c m\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n c\u1ee7a b\u1ec7nh \u03b1-Thalassemia<\/em><\/strong><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>S\u1ed1 l\u01b0\u1ee3ng gene \u03b1-globin b\u1ecb \u0111\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t<\/strong><\/td><td><strong>Ki\u1ec3u gene<\/strong><\/td><td><strong>Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng<\/strong><\/td><\/tr><tr><td>Kh\u00f4ng \u0111\u1ed9t bi\u1ebfn<\/td><td>\u03b1\u03b1\/\u03b1\u03b1<\/td><td>Ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t 1 gene \u03b1-globin<\/td><td>\u03b1\u03b1\/\u03b1- (\u03b1\u03b1\/\u03b1\u03b1<sup>0<\/sup>)<\/td><td>Th\u01b0\u1eddng kh\u00f4ng c\u00f3 tri\u1ec7u ch\u1ee9ng (ng\u01b0\u1eddi mang gen th\u01b0\u1eddng g\u1ecdi l\u00e0 Carrier<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t 2 gene \u03b1-globin<\/td><td>\u03b1-\/\u03b1- (\u03b1\u03b1<sup>0<\/sup>\/\u03b1\u03b1<sup>0<\/sup>) ho\u1eb7c \u03b1\u03b1\/&#8211; (\u03b1\u03b1\/\u03b1<sup>0<\/sup>\u03b1<sup>0<\/sup>)<\/td><td>G\u00e2y b\u1ec7nh \u03b1 &#8211; Thalassemia th\u1ec3 nh\u1eb9, thi\u1ebfu m\u00e1u nh\u1eb9<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t 3 gene \u03b1-globin<\/td><td>\u03b1-\/&#8211; (aa<sup>0<\/sup>\/a<sup>0<\/sup>a<sup>0<\/sup>)<\/td><td>G\u00e2y b\u1ec7nh Hemoglobin H (HbH), m\u1ee9c \u0111\u1ed9 t\u1eeb trung b\u00ecnh \u0111\u1ebfn n\u1eb7ng.<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t 4 gene \u03b1-globin<\/td><td>&#8211;\/&#8211;<\/td><td>G\u00e2y h\u1ed9i ch\u1ee9ng Hb Bart&#8217;s (c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 h\u1ed9i ch\u1ee9ng ph\u00f9 thai nhi Hb Bart\u2019s) d\u1ea1ng r\u1ea5t n\u1eb7ng, th\u01b0\u1eddng g\u00e2y t\u1eed vong cho thai nhi ho\u1eb7c tr\u1ebb s\u01a1 sinh.<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Ghi ch\u00fa: \u03b1<sup>0 <\/sup>(\u03b1-zero): C\u00e1c \u0111\u1ed9t bi\u1ebfn thu\u1ed9c lo\u1ea1i a\u2070 d\u1eabn \u0111\u1ebfn vi\u1ec7c <strong>ho\u00e0n to\u00e0n kh\u00f4ng s\u1ea3n xu\u1ea5t \u0111\u01b0\u1ee3c <\/strong>\u03b1 chu\u1ed7i\u00a0 globin t\u1eeb gen b\u1ecb \u0111\u1ed9t bi\u1ebfn \u0111\u00f3. T\u1eeb &#8220;zero&#8221; \u1edf \u0111\u00e2y \u00e1m ch\u1ec9 &#8220;kh\u00f4ng c\u00f3 s\u1ea3n ph\u1ea9m chu\u1ed7i \u03b1.<\/em><\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img decoding=\"async\" width=\"732\" height=\"442\" src=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-1.png\" alt=\"H\u00ecnh 3. C\u00e1c m\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n trong a-Thalassemia\" class=\"wp-image-3695\" style=\"width:646px;height:auto\" srcset=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-1.png 732w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-1-300x181.png 300w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-1-18x12.png 18w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-1-600x362.png 600w\" sizes=\"(max-width: 732px) 100vw, 732px\" \/><figcaption class=\"wp-element-caption\"><em><strong>H\u00ecnh 3. <\/strong>C\u00e1c m\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n trong \u03b1-Thalassemia<\/em><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>(2) \u0110\u1ed9t bi\u1ebfn \u0111i\u1ec3m<\/strong>: L\u00e0 s\u1ef1 thay \u0111\u1ed5i m\u1ed9t c\u1eb7p base duy nh\u1ea5t trong tr\u00ecnh t\u1ef1 DNA c\u1ee7a gen. \u0110\u1ed9t bi\u1ebfn \u0111i\u1ec3m c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn qu\u00e1 tr\u00ecnh sao m\u00e3, d\u1ecbch m\u00e3, ho\u1eb7c s\u1ef1 \u1ed5n \u0111\u1ecbnh c\u1ee7a mRNA ho\u1eb7c protein globin. \u0110\u00e2y l\u00e0 lo\u1ea1i \u0111\u1ed9t bi\u1ebfn ch\u00ednh g\u00e2y ra <strong>\u03b2-<\/strong>Thalassemia v\u00e0 c\u0169ng c\u00f3 th\u1ec3 g\u1eb7p trong \u03b1-Thalassemia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u03b2-Thalassemia:<\/strong> M\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng ph\u1ee5 thu\u1ed9c v\u00e0o vi\u1ec7c c\u1ea3 <strong>hai gene \u03b2-globin<\/strong> c\u00f3 b\u1ecb \u0111\u1ed9t bi\u1ebfn hay kh\u00f4ng v\u00e0 lo\u1ea1i \u0111\u1ed9t bi\u1ebfn m\u1eafc ph\u1ea3i nh\u01b0 l\u00e0: \u0111\u1ed9t bi\u1ebfn g\u00e2y gi\u1ea3m s\u1ea3n xu\u1ea5t chu\u1ed7i \u03b2 globin (th\u01b0\u1eddng \u0111\u01b0\u1ee3c k\u00ed hi\u1ec7u l\u00e0 \u03b2<sup>+<\/sup>), hay \u0111\u1ed9t bi\u1ebfn g\u00e2y ng\u1eebng ho\u00e0n to\u00e0n s\u1ea3n xu\u1ea5t chu\u1ed7i \u03b2 globin (th\u01b0\u1eddng \u0111\u01b0\u1ee3c k\u00fd hi\u1ec7u l\u00e0 \u03b2<sup>0<\/sup>).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>B\u1ea3ng 2. C\u00e1c m\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n c\u1ee7a b\u1ec7nh \u03b2-Thalassemia<\/strong><\/em><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>S\u1ed1 l\u01b0\u1ee3ng gene \u03b1-globin b\u1ecb \u0111\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t<\/strong><\/td><td><strong>Ki\u1ec3u gene<\/strong><\/td><td><strong>Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng<\/strong><\/td><\/tr><tr><td>Kh\u00f4ng \u0111\u1ed9t bi\u1ebfn<\/td><td>\u03b2\/\u03b2<\/td><td>Ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn ho\u1eb7c m\u1ea5t 1 gene \u03b2 -globin<\/td><td>\u03b2\/\u03b2<sup>0<\/sup> ho\u1eb7c \u03b2\/\u03b2<sup>+<\/sup><\/td><td>\u03b2-Thalassemia th\u1ec3 \u1ea9n (ng\u01b0\u1eddi mang gen), \u00edt ho\u1eb7c kh\u00f4ng c\u00f3 tri\u1ec7u ch\u1ee9ng.<\/td><\/tr><tr><td>\u0110\u1ed9t bi\u1ebfn 1 gene v\u00e0 m\u1ea5t 1 gene \u03b2 -globin ho\u1eb7c \u0111\u1ed9t bi\u1ebfn 2 gene<\/td><td>\u03b2<sup>+<\/sup>\/\u03b2<sup>+&nbsp; <\/sup>ho\u1eb7c \u03b2<sup>+<\/sup>\/\u03b2<sup>0<\/sup><\/td><td>G\u00e2y \u03b2-Thalassemia th\u1ec3 trung gian, m\u1ee9c \u0111\u1ed9 thi\u1ebfu m\u00e1u v\u00e0 tri\u1ec7u ch\u1ee9ng \u0111a d\u1ea1ng.<\/td><\/tr><tr><td>M\u1ea5t 2 gene \u03b2 -globin<\/td><td>\u03b2<sup>0<\/sup>\/\u03b2<sup>0<\/sup><\/td><td>\u03b2-Thalassemia th\u1ec3 n\u1eb7ng (c\u00f2n g\u1ecdi l\u00e0 b\u1ec7nh Cooley), c\u1ea7n truy\u1ec1n m\u00e1u th\u01b0\u1eddng xuy\u00ean.<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" style=\"font-size:32px\"><strong>C\u00e1c ph\u01b0\u01a1ng ph\u00e1p s\u00e0ng l\u1ecdc v\u00e0 ch\u1ea9n \u0111o\u00e1n Thalassemia<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Hi\u1ec7n nay, b\u1ec7nh thalassemia ch\u1ee7 y\u1ebfu \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc v\u00e0 ch\u1ea9n \u0111o\u00e1n th\u00f4ng qua c\u00e1c x\u00e9t nghi\u1ec7m m\u00e1u, trong \u0111\u00f3 bao g\u1ed3m c\u00e1c x\u00e9t nghi\u1ec7m ph\u1ed5 bi\u1ebfn nh\u01b0 sau:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" style=\"font-size:25px\"><strong>Ph\u01b0\u01a1ng ph\u00e1p t\u1ed5ng ph\u00e2n t\u00edch t\u1ebf b\u00e0o m\u00e1u<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">T\u1ed5ng ph\u00e2n t\u00edch t\u1ebf b\u00e0o m\u00e1u l\u00e0 ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m \u0111\u1ea7u ti\u00ean \u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh c\u1ee7a b\u1ed9 y t\u1ebf gi\u00fap ph\u00e1t hi\u1ec7n c\u00e1c d\u1ea5u hi\u1ec7u b\u1ea5t th\u01b0\u1eddng c\u1ee7a h\u1ed3ng c\u1ea7u nh\u01b0 s\u1ed1 l\u01b0\u1ee3ng h\u1ed3ng c\u1ea7u gi\u1ea3m, k\u00edch th\u01b0\u1edbc h\u1ed3ng c\u1ea7u nh\u1ecf (MCV th\u1ea5p), l\u01b0\u1ee3ng huy\u1ebft s\u1eafc t\u1ed1 trung b\u00ecnh trong m\u1ed9t h\u1ed3ng c\u1ea7u th\u1ea5p (MCH th\u1ea5p). Ngo\u00e0i ra ph\u01b0\u01a1ng ph\u00e1p t\u1ed5ng ph\u00e2n t\u00edch t\u1ebf b\u00e0o m\u00e1u c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c h\u00ecnh th\u00e1i h\u1ed3ng c\u1ea7u b\u1ea5t th\u01b0\u1eddng nh\u01b0 anisopoikilocytosis (h\u1ed3ng c\u1ea7u \u0111a k\u00edch th\u01b0\u1edbc, \u0111a h\u00ecnh d\u1ea1ng), h\u1ed3ng c\u1ea7u h\u00ecnh bia, h\u1ed3ng c\u1ea7u nh\u00e2n, h\u1ea1t \u01b0a base, v\u00e0 th\u1ec3 v\u00f9i HbH (h\u00ecnh \u1ea3nh qu\u1ea3 b\u00f3ng golf).<sup>1 <\/sup>Nh\u1eefng ch\u1ec9 s\u1ed1 n\u00e0y g\u1ee3i \u00fd t\u00ecnh tr\u1ea1ng thi\u1ebfu m\u00e1u v\u00e0 c\u00f3 th\u1ec3 l\u00e0 d\u1ea5u hi\u1ec7u c\u1ee7a Thalassemia.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"656\" height=\"437\" src=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-2.png\" alt=\"H\u00ecnh 4. H\u00ecnh th\u00e1i t\u1ebf b\u00e0o b\u00ecnh th\u01b0\u1eddng v\u00e0 t\u1ebf b\u00e0o m\u00e1u b\u1ecb b\u1ec7nh thalassemia\" class=\"wp-image-3696\" style=\"width:474px;height:auto\" srcset=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-2.png 656w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-2-300x200.png 300w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-2-18x12.png 18w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-2-600x400.png 600w\" sizes=\"(max-width: 656px) 100vw, 656px\" \/><figcaption class=\"wp-element-caption\"><em><strong>H\u00ecnh 4. <\/strong>H\u00ecnh th\u00e1i t\u1ebf b\u00e0o b\u00ecnh th\u01b0\u1eddng v\u00e0 t\u1ebf b\u00e0o m\u00e1u b\u1ecb b\u1ec7nh thalassemia<\/em><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">X\u00e9t nghi\u1ec7m s\u1eaft huy\u1ebft thanh (ferritin, \u0111\u1ed9 b\u00e3o h\u00f2a transferrin) l\u00e0 b\u01b0\u1edbc kh\u00f4ng th\u1ec3 thi\u1ebfu \u0111\u1ec3 lo\u1ea1i tr\u1eeb IDA, m\u1ed9t ch\u1ea9n \u0111o\u00e1n ph\u00e2n bi\u1ec7t quan tr\u1ecdng c\u1ee7a thi\u1ebfu m\u00e1u h\u1ed3ng c\u1ea7u nh\u1ecf.<sup>1<\/sup> Vi\u1ec7c s\u1eed d\u1ee5ng th\u01b0\u1eddng quy c\u00e1c x\u00e9t nghi\u1ec7m s\u1eaft \u0111\u1ec3 ph\u00e2n bi\u1ec7t Thalassemia v\u1edbi IDA kh\u00f4ng ch\u1ec9 l\u00e0 m\u1ed9t b\u01b0\u1edbc ch\u1ea9n \u0111o\u00e1n m\u00e0 c\u00f2n l\u00e0 m\u1ed9t y\u1ebfu t\u1ed1 s\u00e0ng l\u1ecdc quan tr\u1ecdng cho c\u00e1c x\u00e9t nghi\u1ec7m ph\u00e2n t\u1eed t\u1ed1n k\u00e9m h\u01a1n. Ch\u1ea9n \u0111o\u00e1n sai \u1edf giai \u0111o\u1ea1n n\u00e0y c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn vi\u1ec7c th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m gene kh\u00f4ng c\u1ea7n thi\u1ebft ho\u1eb7c ng\u01b0\u1ee3c l\u1ea1i, b\u1ecf s\u00f3t ch\u1ea9n \u0111o\u00e1n Thalassemia.<sup>6<\/sup><\/p>\n\n\n\n<h3 class=\"wp-block-heading\" style=\"font-size:25px\"><strong>\u0110i\u1ec7n di huy\u1ebft s\u1eafc t\u1ed1<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u0110i\u1ec7n di huy\u1ebft s\u1eafc t\u1ed1 c\u0169ng l\u00e0 m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m m\u00e1u gi\u00fap ph\u00e2n t\u00edch v\u00e0 \u0111\u1ecbnh l\u01b0\u1ee3ng c\u00e1c th\u00e0nh ph\u1ea7n c\u1ee7a hemoglobin \u0111\u1ec3 t\u1eeb \u0111\u00f3 x\u00e1c \u0111\u1ecbnh c\u00e1c th\u00e0nh ph\u1ea7n hemoglobin l\u00e0 b\u00ecnh th\u01b0\u1eddng hay l\u00e0 b\u1ea5t th\u01b0\u1eddng. \u0110i\u1ec7n di huy\u1ebft s\u1eafc t\u1ed1 bao g\u1ed3m c\u00e1c k\u1ef9 thu\u1eadt \u0111i\u1ec7n di nh\u01b0:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">&nbsp;\u0110i\u1ec7n di hemoglobin tr\u00ean m\u00f4i tr\u01b0\u1eddng cellulose acetate, citrate agar, s\u1eafc k\u00fd l\u1ecfng hi\u1ec7u n\u0103ng cao (HPLC) th\u01b0\u1eddng d\u00f9ng \u0111\u1ec3 \u0111\u1ecbnh l\u01b0\u1ee3ng HbA, HbA2, HbF v\u00e0 ph\u00e1t hi\u1ec7n c\u00e1c bi\u1ebfn th\u1ec3 nh\u01b0 HbH, Hb Bart&#8217;s.<sup>1<\/sup> \u0110i\u1ec7n di mao qu\u1ea3n (CE) c\u0169ng \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng nh\u01b0 m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p thay th\u1ebf ho\u1eb7c b\u1ed5 sung.<sup>12<\/sup><\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"744\" height=\"493\" src=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-3.jpg\" alt=\"H\u00ecnh 5. Ph\u00e2n t\u00edch hemoglobin b\u1eb1ng k\u1ef9 thu\u1eadt s\u1eafc k\u00fd l\u1ecfng hi\u1ec7u n\u0103ng cao (HPLC)\" class=\"wp-image-3697\" style=\"width:495px;height:auto\" srcset=\"https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-3.jpg 744w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-3-300x199.jpg 300w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-3-18x12.jpg 18w, https:\/\/oligox.abtvn.com\/wp-content\/uploads\/2025\/08\/image-3-600x398.jpg 600w\" sizes=\"(max-width: 744px) 100vw, 744px\" \/><figcaption class=\"wp-element-caption\"><em><strong>H\u00ecnh 5. <\/strong>Ph\u00e2n t\u00edch hemoglobin b\u1eb1ng k\u1ef9 thu\u1eadt s\u1eafc k\u00fd l\u1ecfng hi\u1ec7u n\u0103ng cao (HPLC)<\/em><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Tuy nhi\u00ean, c\u00e1c 2 ph\u01b0\u01a1ng ph\u00e1p k\u1ebf tr\u00ean c\u00f3 nh\u1eefng h\u1ea1n ch\u1ebf nh\u1ea5t \u0111\u1ecbnh, ch\u1eb3ng h\u1ea1n nh\u01b0 kh\u00f4ng th\u1ec3 ph\u00e1t hi\u1ec7n t\u1ea5t c\u1ea3 c\u00e1c tr\u1ea1ng th\u00e1i mang gene (\u0111\u1eb7c bi\u1ec7t l\u00e0 \u03b1-thalassemia th\u1ec3 \u1ea9n), g\u1eb7p kh\u00f3 kh\u0103n trong vi\u1ec7c gi\u1ea3i quy\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p ph\u1ee9c t\u1ea1p\/kh\u00f4ng \u0111i\u1ec3n h\u00ecnh v\u00e0 kh\u00f4ng cung c\u1ea5p \u0111\u1eb7c \u0111i\u1ec3m ph\u00e2n t\u1eed ch\u00ednh x\u00e1c.<sup>12<\/sup> Nh\u1eefng h\u1ea1n ch\u1ebf n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c c\u1ea3i thi\u1ec7n b\u1eb1ng s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p sinh h\u1ecdc ph\u00e2n t\u1eed.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Ph\u01b0\u01a1ng ph\u00e1p s\u00e0ng l\u1ecdc v\u00e0 ch\u1ea9n \u0111o\u00e1n Thalassemia ph\u00e2n t\u1eed<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">S\u1ef1 ra \u0111\u1eddi c\u1ee7a ch\u1ea9n \u0111o\u00e1n ph\u00e2n t\u1eed \u0111\u00e3 \u0111\u00e1p \u1ee9ng nhu c\u1ea7u x\u00e1c \u0111\u1ecbnh gene b\u1ec7nh m\u1ed9t c\u00e1ch ch\u00ednh x\u00e1c, nh\u1eadn di\u1ec7n ng\u01b0\u1eddi mang gene, ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh (PND) v\u00e0 ch\u1ea9n \u0111o\u00e1n di truy\u1ec1n tr\u01b0\u1edbc l\u00e0m t\u1ed5 (PGD).<sup>12<\/sup> C\u00e1c k\u1ef9 thu\u1eadt ph\u00e2n t\u1eed \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u ban \u0111\u1ea7u bao g\u1ed3m gi\u1ea3i tr\u00ecnh t\u1ef1 Sanger cho \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m, Gap-PCR cho c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n ph\u1ed5 bi\u1ebfn, Reverse Dot Blot (RDB) cho c\u00e1c \u0111\u1ed9t bi\u1ebfn \u0111\u00e3 bi\u1ebft v\u00e0 Multiplex Ligation-Dependent Probe Amplification (MLPA) cho c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t\/l\u1eb7p \u0111o\u1ea1n.<sup>6<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">S\u1ef1 ph\u1ee9c t\u1ea1p v\u00e0 t\u00ednh kh\u00f4ng \u0111\u1ed3ng nh\u1ea5t v\u1ec1 m\u1eb7t di truy\u1ec1n c\u1ee7a Thalassemia sau \u0111\u00f3 \u0111\u00e3 th\u00fac \u0111\u1ea9y s\u1ef1 chuy\u1ec3n \u0111\u1ed5i t\u1eeb c\u00e1c x\u00e9t nghi\u1ec7m ph\u00e2n t\u1eed \u0111\u01a1n gene sang c\u00e1c panel x\u00e9t nghi\u1ec7m \u0111a gene.<sup>12<\/sup> S\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n n\u00e0y ph\u1ea3n \u00e1nh m\u1ed9t xu h\u01b0\u1edbng r\u1ed9ng l\u1edbn h\u01a1n trong di truy\u1ec1n y h\u1ecdc h\u01b0\u1edbng t\u1edbi c\u00e1c ch\u1ea9n \u0111o\u00e1n to\u00e0n di\u1ec7n h\u01a1n, \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh \u1edf c\u1ea5p \u0111\u1ed9 ph\u00e2n t\u1eed, thay v\u00ec c\u00e1c ph\u00e2n lo\u1ea1i thu\u1ea7n t\u00fay d\u1ef1a tr\u00ean ki\u1ec3u h\u00ecnh.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>B\u1ea3ng 3. <\/strong>So s\u00e1nh c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n Thalassemia truy\u1ec1n th\u1ed1ng, ph\u00e2n t\u1eed v\u00e0 panel.<\/em><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u0110\u1eb7c \u0111i\u1ec3m<\/strong><\/td><td><strong>Ph\u01b0\u01a1ng ph\u00e1p truy\u1ec1n th\u1ed1ng (CBC, Ph\u1ebft m\u00e1u, Ph\u00e2n t\u00edch Hb)<\/strong><\/td><td><strong>Ch\u1ea9n<\/strong><strong> \u0111o\u00e1n<\/strong><strong> ph\u00e2n t\u1eed (Sanger, Gap-PCR)<\/strong><\/td><td><strong>Panel x\u00e9t nghi\u1ec7m<\/strong><strong> (NGS)<\/strong><\/td><\/tr><tr><td><strong>Ph\u01b0\u01a1ng ph\u00e1p lu\u1eadn<\/strong><\/td><td>Huy\u1ebft h\u1ecdc, sinh h\u00f3a<\/td><td>PCR, gi\u1ea3i tr\u00ecnh t\u1ef1<\/td><td>Gi\u1ea3i tr\u00ecnh t\u1ef1 song song h\u00e0ng lo\u1ea1t, b\u1eaft gi\u1eef m\u1ee5c ti\u00eau<\/td><\/tr><tr><td><strong>Ph\u1ea1m vi<\/strong><\/td><td>S\u00e0ng l\u1ecdc ban \u0111\u1ea7u, g\u1ee3i \u00fd ch\u1ea9n \u0111o\u00e1n<\/td><td>Ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn\/m\u1ea5t \u0111o\u1ea1n \u0111\u00e3 bi\u1ebft<\/td><td>Ph\u00e2n t\u00edch \u0111\u1ed3ng th\u1eddi nhi\u1ec1u gene, ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn m\u1edbi<\/td><\/tr><tr><td><strong>Ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn<\/strong><\/td><td>Gi\u00e1n ti\u1ebfp qua thay \u0111\u1ed5i huy\u1ebft h\u1ecdc\/Hb<\/td><td>Tr\u1ef1c ti\u1ebfp, gi\u1edbi h\u1ea1n \u1edf m\u1ee5c ti\u00eau c\u1ee5 th\u1ec3<\/td><td>To\u00e0n di\u1ec7n (SNV, indel, CNV ti\u1ec1m n\u0103ng)<\/td><\/tr><tr><td><strong>Ph\u00e1t hi\u1ec7n ng\u01b0\u1eddi mang gene<\/strong><\/td><td>H\u1ea1n ch\u1ebf, b\u1ecf s\u00f3t th\u1ec3 \u1ea9n<\/td><td>T\u1ed1t h\u01a1n, nh\u01b0ng v\u1eabn gi\u1edbi h\u1ea1n<\/td><td>\u0110\u1ed9 nh\u1ea1y cao, \u0111\u1eb7c bi\u1ec7t v\u1edbi \u03b1-thalassemia<\/td><\/tr><tr><td><strong>Kh\u1ea3 n\u0103ng PND\/PGD<\/strong><\/td><td>Kh\u00f4ng tr\u1ef1c ti\u1ebfp<\/td><td>C\u00f3 th\u1ec3, n\u1ebfu \u0111\u1ed9t bi\u1ebfn gia \u0111\u00ecnh \u0111\u00e3 bi\u1ebft<\/td><td>L\u00fd t\u01b0\u1edfng, \u0111\u1ed9 ch\u00ednh x\u00e1c cao<\/td><\/tr><tr><td><strong>Chi ph\u00ed (t\u01b0\u01a1ng \u0111\u1ed1i)<\/strong><\/td><td>Th\u1ea5p<\/td><td>Trung b\u00ecnh<\/td><td>Cao<\/td><\/tr><tr><td><strong>Th\u1eddi gian tr\u1ea3 k\u1ebft qu\u1ea3<\/strong><\/td><td>Nhanh<\/td><td>V\u00e0i ng\u00e0y \u0111\u1ebfn v\u00e0i tu\u1ea7n<\/td><td>V\u00e0i ng\u00e0y \u0111\u1ebfn v\u00e0i tu\u1ea7n, t\u00f9y thu\u1ed9c v\u00e0o quy tr\u00ecnh<\/td><\/tr><tr><td><strong>H\u1ea1n ch\u1ebf<\/strong><\/td><td>\u0110\u1ed9 nh\u1ea1y\/\u0111\u1eb7c hi\u1ec7u h\u1ea1n ch\u1ebf, kh\u00f4ng x\u00e1c \u0111\u1ecbnh \u0111\u1ed9t bi\u1ebfn<\/td><td>B\u1ecf s\u00f3t \u0111\u1ed9t bi\u1ebfn m\u1edbi\/hi\u1ebfm, m\u1ea5t \u0111o\u1ea1n l\u1edbn<\/td><td>VUS, th\u00e1ch th\u1ee9c tin sinh h\u1ecdc, chi ph\u00ed \u1edf m\u1ed9t s\u1ed1 n\u01a1i<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>Ch\u00fa th\u00edch:<\/strong> NGS (Gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 m\u1edbi), SNV (Bi\u1ebfn th\u1ec3 \u0111\u01a1n nucleotide), Indel (Ch\u00e8n\/m\u1ea5t \u0111o\u1ea1n nh\u1ecf), CNV (Bi\u1ebfn th\u1ec3 s\u1ed1 l\u01b0\u1ee3ng b\u1ea3n sao), SV (Bi\u1ebfn th\u1ec3 c\u1ea5u tr\u00fac), VUS (Bi\u1ebfn th\u1ec3 ch\u01b0a r\u00f5 \u00fd ngh\u0129a l\u00e2m s\u00e0ng).<\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" style=\"font-size:32px\"><strong>C\u00e1c c\u00f4ng ngh\u1ec7 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng trong panel gene Thalassemia<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Panel gene ch\u1ea9n \u0111o\u00e1n \u0111\u01b0\u1ee3c \u0111\u1ecbnh ngh\u0129a l\u00e0 c\u00e1c x\u00e9t nghi\u1ec7m cho ph\u00e9p ph\u00e2n t\u00edch \u0111\u1ed3ng th\u1eddi nhi\u1ec1u gene li\u00ean quan \u0111\u1ebfn m\u1ed9t ki\u1ec3u h\u00ecnh c\u1ee5 th\u1ec3 ho\u1eb7c m\u1ed9t nh\u00f3m c\u00e1c r\u1ed1i lo\u1ea1n c\u00f3 li\u00ean quan.<sup>29<\/sup> Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y \u0111\u1eb7c bi\u1ec7t h\u1eefu \u00edch cho c\u00e1c b\u1ec7nh kh\u00f4ng \u0111\u1ed3ng nh\u1ea5t v\u1ec1 m\u1eb7t di truy\u1ec1n nh\u01b0 Thalassemia.<sup>31<\/sup><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>M\u1ee5c ti\u00eau ph\u00e2n t\u1eed trong panel Thalassemia<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">C\u00e1c panel ch\u1ea9n \u0111o\u00e1n Thalassemia th\u01b0\u1eddng nh\u1eafm v\u00e0o c\u00e1c gene sau:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>C\u1ee5m gene \u03b1-globin (<em>HBA1, HBA2<\/em> tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 16):<\/strong> Ph\u00e1t hi\u1ec7n c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n (v\u00ed d\u1ee5: -\u03b13.7, -\u03b14.2, &#8211;SEA, &#8211;MED, &#8211;FIL, &#8211;THAI, -(\u03b1)20.5), l\u1eb7p \u0111o\u1ea1n (v\u00ed d\u1ee5: \u03b1\u03b1\u03b1anti\u22123.7), v\u00e0 \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m (v\u00ed d\u1ee5: Hb Constant Spring (<em>HBA2:c.427T>C<\/em>), Hb Quong Sze, Hb Adana).<sup>1<\/sup><\/li>\n\n\n\n<li><strong>C\u1ee5m gene \u03b2-globin (<em>HBB<\/em> tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 11):<\/strong> Ph\u00e1t hi\u1ec7n c\u00e1c \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m (\u0111\u1ed9t bi\u1ebfn v\u00f9ng promoter, v\u1ecb tr\u00ed n\u1ed1i gh\u00e9p (splice site), v\u00f9ng m\u00e3 h\u00f3a d\u1eabn \u0111\u1ebfn c\u00e1c alen \u03b20, \u03b2+, \u03b2++), c\u00e1c \u0111\u1ed9t bi\u1ebfn ch\u00e8n\/m\u1ea5t \u0111o\u1ea1n nh\u1ecf (indel), v\u00e0 c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n hi\u1ebfm g\u1eb7p.<sup>1<\/sup><\/li>\n\n\n\n<li><strong>Gene delta-globin (<em>HBD<\/em>):<\/strong> Th\u01b0\u1eddng \u0111\u01b0\u1ee3c bao g\u1ed3m \u0111\u1ec3 gi\u1ea3i th\u00edch m\u1ee9c HbA2 v\u00e0 ch\u1ea9n \u0111o\u00e1n \u03b4\u03b2-thalassemia ho\u1eb7c \u03b4-thalassemia, nh\u1eefng t\u00ecnh tr\u1ea1ng c\u00f3 th\u1ec3 l\u00e0m ph\u1ee9c t\u1ea1p vi\u1ec7c ch\u1ea9n \u0111o\u00e1n \u03b2-thalassemia.<sup>8<\/sup><\/li>\n\n\n\n<li><strong>Gene gamma-globin (<em>HBG1, HBG2<\/em>):<\/strong> Li\u00ean quan \u0111\u1ebfn T\u1ed3n t\u1ea1i dai d\u1eb3ng Hemoglobin b\u00e0o thai (HPFH) v\u00e0 hi\u1ec3u bi\u1ebft v\u1ec1 m\u1ee9c HbF, m\u1ed9t y\u1ebfu t\u1ed1 \u0111i\u1ec1u h\u00f2a quan tr\u1ecdng m\u1ee9c \u0111\u1ed9 n\u1eb7ng c\u1ee7a \u03b2-thalassemia.<sup>8<\/sup><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">S\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a n\u1ed9i dung panel t\u1eeb vi\u1ec7c ch\u1ec9 t\u1eadp trung v\u00e0o c\u00e1c gene <em>HBA<\/em> v\u00e0 <em>HBB<\/em> <sup>5<\/sup> sang bao g\u1ed3m c\u1ea3 <em>HBD, HBG1\/HBG2<\/em> <sup>13<\/sup> v\u00e0 th\u1eadm ch\u00ed c\u1ea3 c\u00e1c gene \u0111i\u1ec1u h\u00f2a kh\u00f4ng ph\u1ea3i globin ph\u1ea3n \u00e1nh s\u1ef1 hi\u1ec3u bi\u1ebft s\u00e2u s\u1eafc h\u01a1n v\u1ec1 t\u00ednh ph\u1ee9c t\u1ea1p di truy\u1ec1n c\u1ee7a Thalassemia v\u00e0 nh\u1eefng h\u1ea1n ch\u1ebf c\u1ee7a vi\u1ec7c t\u1eadp trung ch\u1ea9n \u0111o\u00e1n h\u1eb9p. Xu h\u01b0\u1edbng n\u00e0y \u0111\u01b0\u1ee3c th\u00fac \u0111\u1ea9y b\u1edfi nhu c\u1ea7u gi\u1ea3i th\u00edch s\u1ef1 thay \u0111\u1ed5i ki\u1ec3u h\u00ecnh v\u00e0 gi\u1ea3i quy\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p kh\u00f4ng r\u00f5 r\u00e0ng.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>C\u00e1c c\u00f4ng ngh\u1ec7 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng trong panel Thalassemia<\/strong><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>C\u00f4ng ngh\u1ec7 d\u1ef1a tr\u00ean PCR (Polymerase Chain Reaction<\/strong>)<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><a href=\"https:\/\/abtvn.com\/su-khac-nhau-giua-pcr-va-real-time-pcr\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/abtvn.com\/su-khac-nhau-giua-pcr-va-real-time-pcr\/\" rel=\"noreferrer noopener\">Multiplex PCR<\/a><\/strong>: Cho ph\u00e9p khu\u1ebfch \u0111\u1ea1i \u0111\u1ed3ng th\u1eddi nhi\u1ec1u \u0111o\u1ea1n gen \u0111\u00edch kh\u00e1c nhau trong m\u1ed9t ph\u1ea3n \u1ee9ng duy nh\u1ea5t. \u0110i\u1ec1u n\u00e0y gi\u00fap ph\u00e1t hi\u1ec7n nhi\u1ec1u \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m ho\u1eb7c c\u00e1c \u0111o\u1ea1n gen nh\u1ecf m\u1ed9t c\u00e1ch hi\u1ec7u qu\u1ea3.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>ARMS-PCR<\/strong> (Amplification Refractory Mutation System PCR) ho\u1eb7c Allele-Specific PCR: S\u1eed d\u1ee5ng c\u00e1c m\u1ed3i \u0111\u1eb7c hi\u1ec7u \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m \u0111\u00e3 bi\u1ebft. Nhi\u1ec1u x\u00e9t nghi\u1ec7m ARMS c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c g\u1ed9p l\u1ea1i (multiplex ARMS-PCR) \u0111\u1ec3 s\u00e0ng l\u1ecdc \u0111\u1ed3ng th\u1eddi nhi\u1ec1u \u0111\u1ed9t bi\u1ebfn ph\u1ed5 bi\u1ebfn.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Gap-PCR<\/strong>: \u0110\u01b0\u1ee3c thi\u1ebft k\u1ebf \u0111\u1eb7c bi\u1ec7t \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n (deletions) th\u01b0\u1eddng g\u1eb7p trong Alpha Thalassemia (v\u00ed d\u1ee5: &#8211;SEA, -\u03b13.7, -\u03b14.2) v\u00e0 m\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n hi\u1ebfm h\u01a1n trong Beta Thalassemia. Panel c\u00f3 th\u1ec3 bao g\u1ed3m nhi\u1ec1u c\u1eb7p m\u1ed3i Gap-PCR kh\u00e1c nhau \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c lo\u1ea1i m\u1ea5t \u0111o\u1ea1n kh\u00e1c nhau.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Real-time PCR<\/strong> k\u1ebft h\u1ee3p v\u1edbi ph\u00e2n t\u00edch \u0111\u01b0\u1eddng cong n\u00f3ng ch\u1ea3y (High-Resolution Melting &#8211; HRM): C\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 s\u00e0ng l\u1ecdc c\u00e1c bi\u1ebfn th\u1ec3 tr\u00ecnh t\u1ef1 (bao g\u1ed3m c\u1ea3 \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m m\u1edbi) d\u1ef1a tr\u00ean s\u1ef1 kh\u00e1c bi\u1ec7t v\u1ec1 nhi\u1ec7t \u0111\u1ed9 n\u00f3ng ch\u1ea3y c\u1ee7a s\u1ea3n ph\u1ea9m PCR.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>C\u00f4ng ngh\u1ec7 Lai (Hybridization)<\/strong><\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Reverse Dot Blot (ho\u1eb7c Line Probe Assay):<\/strong> S\u1ea3n ph\u1ea9m PCR \u0111\u01b0\u1ee3c lai v\u1edbi c\u00e1c \u0111\u1ea7u d\u00f2 (probe) \u0111\u1eb7c hi\u1ec7u cho c\u00e1c \u0111\u1ed9t bi\u1ebfn \u0111\u00e3 bi\u1ebft \u0111\u01b0\u1ee3c c\u1ed1 \u0111\u1ecbnh tr\u00ean m\u1ed9t m\u00e0ng lai (strip). Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y cho ph\u00e9p ph\u00e1t hi\u1ec7n \u0111\u1ed3ng th\u1eddi h\u00e0ng ch\u1ee5c \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m v\u00e0 m\u1ea5t \u0111o\u1ea1n nh\u1ecf ph\u1ed5 bi\u1ebfn. V\u00ed d\u1ee5 nh\u01b0 c\u00e1c b\u1ed9 kit &#8220;StripAssay&#8221;.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DNA Microarray (Chip y t\u1ebf)<\/strong>: Cho ph\u00e9p ph\u00e2n t\u00edch \u0111\u1ed3ng th\u1eddi h\u00e0ng tr\u0103m \u0111\u1ebfn h\u00e0ng ng\u00e0n \u0111\u1ed9t bi\u1ebfn gen tr\u00ean m\u1ed9t chip nh\u1ecf. C\u00e1c \u0111\u1ea7u d\u00f2 DNA \u0111\u01b0\u1ee3c g\u1eafn tr\u00ean b\u1ec1 m\u1eb7t chip s\u1ebd lai v\u1edbi DNA c\u1ee7a b\u1ec7nh nh\u00e2n. M\u1eb7c d\u00f9 c\u00f3 ti\u1ec1m n\u0103ng l\u1edbn, vi\u1ec7c \u1ee9ng d\u1ee5ng r\u1ed9ng r\u00e3i trong ch\u1ea9n \u0111o\u00e1n Thalassemia th\u01b0\u1eddng quy c\u00f3 th\u1ec3 b\u1ecb h\u1ea1n ch\u1ebf b\u1edfi chi ph\u00ed v\u00e0 s\u1ef1 ph\u1ee9c t\u1ea1p.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong><\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">C\u00f4ng ngh\u1ec7 n\u00e0y r\u1ea5t hi\u1ec7u qu\u1ea3 \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c thay \u0111\u1ed5i s\u1ed1 l\u01b0\u1ee3ng b\u1ea3n sao gen (Copy Number Variations &#8211; CNVs), t\u1ee9c l\u00e0 c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n ho\u1eb7c l\u1eb7p \u0111o\u1ea1n.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Trong panel Thalassemia, MLPA \u0111\u00f3ng vai tr\u00f2 quan tr\u1ecdng trong vi\u1ec7c x\u00e1c \u0111\u1ecbnh c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n l\u1edbn tr\u00ean gen alpha-globin (nguy\u00ean nh\u00e2n ch\u00ednh c\u1ee7a Alpha Thalassemia) v\u00e0 c\u00e1c \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n\/l\u1eb7p \u0111o\u1ea1n hi\u1ebfm g\u1eb7p h\u01a1n tr\u00ean gen beta-globin m\u00e0 c\u00e1c ph\u01b0\u01a1ng ph\u00e1p PCR th\u00f4ng th\u01b0\u1eddng c\u00f3 th\u1ec3 b\u1ecf s\u00f3t.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>Gi\u1ea3i tr\u00ecnh t\u1ef1 gen (Sequencing)<\/strong><\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Gi\u1ea3i tr\u00ecnh t\u1ef1 Sanger<\/strong>: Th\u01b0\u1eddng \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c nh\u1eadn c\u00e1c \u0111\u1ed9t bi\u1ebfn \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n b\u1eb1ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p kh\u00e1c ho\u1eb7c \u0111\u1ec3 ph\u00e2n t\u00edch c\u00e1c v\u00f9ng gen c\u1ee5 th\u1ec3 kh\u00f4ng \u0111\u01b0\u1ee3c bao ph\u1ee7 \u0111\u1ea7y \u0111\u1ee7 b\u1edfi c\u00e1c panel s\u00e0ng l\u1ecdc ban \u0111\u1ea7u, \u0111\u1eb7c bi\u1ec7t khi nghi ng\u1edd \u0111\u1ed9t bi\u1ebfn hi\u1ebfm ho\u1eb7c m\u1edbi. M\u1ed9t s\u1ed1 panel c\u00f3 th\u1ec3 t\u00edch h\u1ee3p gi\u1ea3i tr\u00ecnh t\u1ef1 Sanger cho c\u00e1c exon quan tr\u1ecdng c\u1ee7a gen HBB.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 m\u1edbi (Next-Generation Sequencing &#8211; NGS):<\/strong> \u0110\u00e2y l\u00e0 c\u00f4ng ngh\u1ec7 m\u1ea1nh m\u1ebd v\u00e0 ng\u00e0y c\u00e0ng ph\u1ed5 bi\u1ebfn trong c\u00e1c panel Thalassemia to\u00e0n di\u1ec7n.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Targeted Gene Panels (Panel gen \u0111\u00edch): NGS cho ph\u00e9p gi\u1ea3i tr\u00ecnh t\u1ef1 \u0111\u1ed3ng th\u1eddi to\u00e0n b\u1ed9 v\u00f9ng m\u00e3 h\u00f3a (exon), c\u00e1c v\u00f9ng intron quan tr\u1ecdng (n\u01a1i c\u00f3 th\u1ec3 ch\u1ee9a \u0111\u1ed9t bi\u1ebfn \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn splicing) v\u00e0 c\u1ea3 c\u00e1c v\u00f9ng \u0111i\u1ec1u h\u00f2a c\u1ee7a c\u00e1c gen globin (HBA1, HBA2, HBB) v\u00e0 \u0111\u00f4i khi c\u1ea3 c\u00e1c gen li\u00ean quan kh\u00e1c. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>\u01afu \u0111i\u1ec3m c\u1ee7a NGS trong panel Thalassemia bao g\u1ed3m:<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">(1) Kh\u1ea3 n\u0103ng ph\u00e1t hi\u1ec7n ph\u1ed5 r\u1ed9ng c\u00e1c lo\u1ea1i \u0111\u1ed9t bi\u1ebfn: \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m, \u0111\u1ed9t bi\u1ebfn ch\u00e8n\/m\u1ea5t \u0111o\u1ea1n nh\u1ecf (indel), v\u00e0 v\u1edbi c\u00e1c thu\u1eadt to\u00e1n ph\u00e2n t\u00edch ph\u00f9 h\u1ee3p, c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n c\u1ea3 c\u00e1c bi\u1ebfn th\u1ec3 s\u1ed1 l\u01b0\u1ee3ng b\u1ea3n sao (CNVs).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">(2) <span style=\"font-size: 1rem;\">Ph\u00e1t hi\u1ec7n \u0111\u01b0\u1ee3c c\u00e1c \u0111\u1ed9t bi\u1ebfn hi\u1ebfm g\u1eb7p v\u00e0 \u0111\u1ed9t bi\u1ebfn m\u1edbi m\u00e0 c\u00e1c ph\u01b0\u01a1ng ph\u00e1p d\u1ef1a tr\u00ean ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn \u0111\u00e3 bi\u1ebft c\u00f3 th\u1ec3 b\u1ecf s\u00f3t.<\/span><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">(3) <span style=\"font-size: 1rem;\">Hi\u1ec7u qu\u1ea3 v\u1ec1 chi ph\u00ed khi c\u1ea7n ph\u00e2n t\u00edch to\u00e0n di\u1ec7n nhi\u1ec1u v\u00f9ng gen.<\/span><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">(4) C\u00e1c n\u1ec1n t\u1ea3ng NGS ph\u1ed5 bi\u1ebfn bao g\u1ed3m Illumina, Ion Torrent.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" style=\"font-size:32px\"><strong>t\u00e0i li\u1ec7u tham kh\u1ea3o<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Muncie, H. L., Jr., &amp; Campbell, J. (2009). <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19678601\/\" target=\"_blank\" rel=\"noreferrer noopener\">Thalassemias: An overview<\/a>. <em>American Family Physician<\/em>, <em>80<\/em>(4), 339\u2013344.<\/li>\n\n\n\n<li>Sutar, P., Das, S., Jena, L., &amp; Dehury, S. (2024). <em><a href=\"https:\/\/www.mdpi.com\/2039-4365\/14\/4\/10\" target=\"_blank\" rel=\"noreferrer noopener\">Thalassemia: Pathophysiology, diagnosis, and advances in treatment<\/a><\/em><\/li>\n\n\n\n<li>Cleveland Clinic. (2022, May 16). <em>Beta thalassemia: Types, symptoms &amp; treatment<\/em>.<\/li>\n\n\n\n<li>PreventionGenetics. (2024, March 25). <em>Alpha Thalassemia Panel Test<\/em>.<\/li>\n\n\n\n<li>Piel, F. B., &amp; Weatherall, D. J. (2024). Diagnosis and treatment of alpha thalassemia major. <em>Hematology\/Oncology Clinics of North America<\/em>, <em>38<\/em>(4), 717-733.<\/li>\n\n\n\n<li>Cao, A., &amp; Kan, Y. W. (2013, January 3). Beta-Thalassemia. In M. P. Adam, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, &amp; A. Amemiya (Eds.), <em>GeneReviews\u00ae<\/em>. National Center for Biotechnology Information (US).<\/li>\n\n\n\n<li>Shang, X., &amp; Xu, X. (2021). The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies. <em>Frontiers in Physiology<\/em>, <em>12<\/em>, 686689.<\/li>\n\n\n\n<li>Sharma, N., Dadu, T., &amp; Ranamalla, P. (2014). Prevalence of alpha thalassemia in microcytic anemia: A tertiary care experience from North India. <em>Indian Journal of Hematology &amp; Blood Transfusion<\/em>, <em>30<\/em>(Suppl 1), 231\u2013234.<\/li>\n\n\n\n<li>Crockett, M., Cross, S., Hwu, W.-L., &amp; Lin, S.-P. (2024). Clinical utility of the addition of molecular genetic testing to newborn screening for hemoglobinopathies for confirmation of alpha-thalassemia trait. <em>Genes<\/em>, <em>15<\/em>(1), 12.<\/li>\n\n\n\n<li>Cao, A., &amp; Kan, Y. W. (2013). Beta-Thalassemia. In M. P. Adam et al. (Eds.), <em>GeneReviews\u00ae<\/em>.<\/li>\n\n\n\n<li>Chippagiri, S., &amp; Gillellamudi, S. B. (2024, January 10). <em>Laboratory evaluation of alpha thalassemia<\/em>. In <em>StatPearls<\/em>.<\/li>\n\n\n\n<li>Giardine, B., &amp; Mast, A. (2020). Update in laboratory diagnosis of thalassemia. <em>Frontiers in Molecular Biosciences<\/em>, <em>7<\/em>, 74.<\/li>\n\n\n\n<li>Waye, J. S., &amp; Eng, B. (2023, August 28). <em>Laboratory evaluation of beta thalassemia<\/em>. In <em>StatPearls<\/em>.<\/li>\n\n\n\n<li>Shang, X., &amp; Xu, X. (2021). The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies. <em>Frontiers in Physiology<\/em>, <em>12<\/em>, 686689.<\/li>\n\n\n\n<li>He, S., Li, Y., Mai, Z., Liang, Z., Mai, H., Chen, Z., Fu, X., Lin, F., Li, H., Chen, S., Mo, Q., Liu, Z., Li, D., &amp; Jin, L. (2022). Applications of next generation sequencing in the screening and diagnosis of thalassemia. <em>Orphanet Journal of Rare Diseases<\/em>, <em>17<\/em>(1), 385.<\/li>\n\n\n\n<li>Point32Health. (2024, January). <em>Genetic testing \u2013 Prenatal diagnosis and carrier screening<\/em>.<\/li>\n\n\n\n<li>Thein, S. L. (2013). The molecular basis of \u03b2-thalassemia. <em>Cold Spring Harbor Perspectives in Medicine<\/em>, <em>3<\/em>(5), a011700.<\/li>\n\n\n\n<li>Oxford University Hospitals NHS Foundation Trust. (n.d.). <em>Genetic testing for haemoglobinopathies (R93, R94, R361, R362)<\/em>.<\/li>\n\n\n\n<li>Centers for Disease Control and Prevention. (2024, March 28). <em>Genetic testing<\/em>. Genomics and Your Health.<\/li>\n\n\n\n<li>Forget, B. G., &amp; Bunn, H. F. (2013). HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. <em>Blood<\/em>, <em>121<\/em>(12), 2181-2182.<\/li>\n\n\n\n<li>Danjou, F., Francavilla, M., Anni, F., Satta, S., Vania, A., Manunza, L., &#8230; &amp; Cao, A. (2012). Genetic modifiers of \u03b2-thalassemia and clinical severity as assessed by a LOHAS score. <em>Haematologica<\/em>, <em>97<\/em>(7), 999\u20131005.<\/li>\n\n\n\n<li>Zhao, Y., Liu, H., Zhao, H., Zhang, L., Cheng, L., &amp; Luo, S. (2023). Application of next generation sequencing in thalassemia screening: A systematic review and meta-analysis. <em>Heliyon<\/em>, <em>9<\/em>(2), e13361.<\/li>\n\n\n\n<li>Al Zahrani, M., &amp; Aljurf, M. (2023). A genomic perspective of benign hematological disorders in the era of next-generation sequencing. <em>Journal of Hematology &amp; Allied Sciences<\/em>, <em>3<\/em>(1), 1-11.<\/li>\n\n\n\n<li>Li, W., Wang, S., Li, J., &amp; Zhang, J. (2024). Comparison of next-generation sequencing and Oxford nanopore technology for noninvasive prenatal testing in thalassemia screening: A comprehensive review. <em>Clinica Chimica Acta<\/em>, <em>557<\/em>, 118872.<\/li>\n\n\n\n<li>Alfano, G., Miscione, H., Melchionda, O., Guacci, A., Pernechele, G., Frangella, M., &#8230; &amp; Palumbo, O. (2024). Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders.<\/li>\n\n\n\n<li>He, J., Chen, G., Ou, T., Xiao, B., Zhong, L., Li, C., &#8230; &amp; Xu, M. (2024). Haplotype-resolved genotyping and association analysis of 1020 \u03b2-thalassemia patients by targeted long-read sequencing. <em>Human Genetics<\/em>, <em>143<\/em>(6), 805-817.<\/li>\n\n\n\n<li>He, S., &amp; Xu, X. (2023). Next-generation sequencing (NGS) and third-generation sequencing (TGS) for the diagnosis of thalassemia. <em>Diagnostics<\/em>, <em>13<\/em>(3), 373.<\/li>\n\n\n\n<li>Lee, S. M., Kim, Y., Kang, H. J., Lee, H. S., Kim, J. K., &amp; Lee, K. E. (2024). Diagnostic performance of next-generation sequencing (NGS) in indeterminate thyroid nodules: A single hospital experience. <em>International Journal of Molecular Sciences<\/em>, <em>26<\/em>(9), 4225.<\/li>\n\n\n\n<li>Locatelli, F., Porter, J., El-Beshlawy, A., Li, C. K., Chan, L. L., Tifu, C., &#8230; &amp; Viprakasit, V. (2019). Current and future alternative therapies for beta-thalassemia major. <em>Expert Opinion on Orphan Drugs<\/em>, <em>7<\/em>(3), 113-126.<\/li>\n\n\n\n<li>Singh, S., Srivastav, S., Singh, A. K., Singh, A., Singh, K., &amp; Singh, V. K. (2020). Impact of genetic polymorphisms in modifier genes in determining fetal hemoglobin levels in beta-thalassemia. <em>Journal of Clinical Laboratory Analysis<\/em>, <em>34<\/em>(1), e23019.<\/li>\n\n\n\n<li>Luo, H. Y., Nalam, S., &amp; ClinGen Hemoglobinopathy Variant Curation Expert Panel. (2021). Adapting the ACMG\/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. <em>Human Mutation<\/em>, <em>42<\/em>(12), 1467\u20131476.<\/li>\n\n\n\n<li>Nakao, T., Shimokawa, T., Koh, Y., Nawa, T., Morita, A., &amp; Yonemori, K. (2024). Cost-effectiveness analysis of the Oncomine\u2122 Dx Target Test MultiCDx System using next-generation sequencing and single-gene test in advanced and recurrent nonsquamous non-small-cell lung cancer. <em>JMA Journal<\/em>, <em>7<\/em>(2), 131-141.<\/li>\n\n\n\n<li>World Health Organization. (n.d.-a). <em>Diagnosis, management and prevention of thalassaemia<\/em>. Retrieved May 8, 2025, from https:\/\/www.who.int\/teams\/noncommunicable-diseases\/genetic-disorders\/thalassaemia\/diagnosis-management-prevention<\/li>\n\n\n\n<li>Shang, X., &amp; He, S. (2022). Molecular mechanisms and diagnostic methods for hemoglobinopathies. <em>Biomolecules<\/em>, <em>12<\/em>(11), 1809.<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"<p>T\u1ed5ng quan Thalassemia Gi\u1edbi thi\u1ec7u Thalassemia Thalassemia (hay c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi v\u1edbi t\u00ean b\u1ec7nh tan m\u00e1u b\u1ea9m sinh) l\u00e0 m\u1ed9t b\u1ec7nh l\u00fd huy\u1ebft h\u1ecdc di truy\u1ec1n c\u00f3 t\u1ef7 l\u1ec7 l\u01b0u h\u00e0nh cao tr\u00ean to\u00e0n c\u1ea7u v\u00e0 l\u00e0 m\u1ed9t v\u1ea5n \u0111\u1ec1 y t\u1ebf c\u00f4ng c\u1ed9ng quan tr\u1ecdng, \u0111\u1eb7c bi\u1ec7t \u1edf c\u00e1c v\u00f9ng l\u01b0u h\u00e0nh b\u1ec7nh nh\u01b0 &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"\" href=\"https:\/\/oligox.abtvn.com\/en\/pannel-ung-dung-trong-chan-doan-thalassemia\/\"> <span class=\"screen-reader-text\">Pannel \u1ee9ng d\u1ee5ng trong ch\u1ea9n \u0111o\u00e1n Thalassemia<\/span> Read More \u00bb<\/a><\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_uag_custom_page_level_css":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[23,28],"tags":[],"class_list":["post-3692","post","type-post","status-publish","format-standard","hentry","category-bai-viet","category-application"],"jetpack_featured_media_url":"","uagb_featured_image_src":{"full":false,"thumbnail":false,"medium":false,"medium_large":false,"large":false,"1536x1536":false,"2048x2048":false,"trp-custom-language-flag":false,"ultp_layout_landscape_large":false,"ultp_layout_landscape":false,"ultp_layout_portrait":false,"ultp_layout_square":false,"woocommerce_thumbnail":false,"woocommerce_single":false,"woocommerce_gallery_thumbnail":false},"uagb_author_info":{"display_name":"admin","author_link":"https:\/\/oligox.abtvn.com\/en\/author\/admin\/"},"uagb_comment_info":2,"uagb_excerpt":"T\u1ed5ng quan Thalassemia Gi\u1edbi thi\u1ec7u Thalassemia Thalassemia (hay c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi v\u1edbi t\u00ean b\u1ec7nh tan m\u00e1u b\u1ea9m sinh) l\u00e0 m\u1ed9t b\u1ec7nh l\u00fd huy\u1ebft h\u1ecdc di truy\u1ec1n c\u00f3 t\u1ef7 l\u1ec7 l\u01b0u h\u00e0nh cao tr\u00ean to\u00e0n c\u1ea7u v\u00e0 l\u00e0 m\u1ed9t v\u1ea5n \u0111\u1ec1 y t\u1ebf c\u00f4ng c\u1ed9ng quan tr\u1ecdng, \u0111\u1eb7c bi\u1ec7t \u1edf c\u00e1c v\u00f9ng l\u01b0u h\u00e0nh b\u1ec7nh nh\u01b0&hellip;","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/posts\/3692","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/comments?post=3692"}],"version-history":[{"count":4,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/posts\/3692\/revisions"}],"predecessor-version":[{"id":3701,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/posts\/3692\/revisions\/3701"}],"wp:attachment":[{"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/media?parent=3692"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/categories?post=3692"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/oligox.abtvn.com\/en\/wp-json\/wp\/v2\/tags?post=3692"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}