{"id":34068,"date":"2022-10-08T22:20:04","date_gmt":"2022-10-08T15:20:04","guid":{"rendered":"https:\/\/www.vnras.com\/drug\/?p=34068"},"modified":"2022-10-08T22:25:47","modified_gmt":"2022-10-08T15:25:47","slug":"hieu-them-ve-alpha-thalassemia-va-beta-thalassemia-trong-thai-ky","status":"publish","type":"post","link":"https:\/\/vnras.com\/drug\/hieu-them-ve-alpha-thalassemia-va-beta-thalassemia-trong-thai-ky\/","title":{"rendered":"Hi\u1ec3u th\u00eam v\u1ec1 Alpha Thalassemia v\u00e0 Beta Thalassemia trong thai k\u1ef3"},"content":{"rendered":"

Bi\u00ean d\u1ecbch B\u00e1c s\u0129 V\u0169 T\u00e0i<\/p>\n

nhathuocluuanh<\/a>.H\u1ed8I CH\u1ee8NG THALASSEMIA<\/a> (Williams Obstetrics, 26E)<\/p>\n

H\u00e0ng tr\u0103m \u0111\u1ed9t bi\u1ebfn \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn c\u00e1c gen ki\u1ec3m so\u00e1t s\u1ea3n xu\u1ea5t hemoglobin (Benz, 2018). M\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn trong s\u1ed1 n\u00e0y l\u00e0m suy gi\u1ea3m t\u1ed5ng h\u1ee3p m\u1ed9t ho\u1eb7c nhi\u1ec1u peptit globin b\u00ecnh th\u01b0\u1eddng v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn h\u1ed9i ch\u1ee9ng l\u00e2m s\u00e0ng \u0111\u1eb7c tr\u01b0ng b\u1edfi c\u00e1c m\u1ee9c \u0111\u1ed9 kh\u00e1c nhau c\u1ee7a vi\u1ec7c t\u1ea1o h\u1ed3ng c\u1ea7u kh\u00f4ng hi\u1ec7u qu\u1ea3, tan m\u00e1u<\/strong> v\u00e0 thi\u1ebfu m\u00e1u. Thalassemia<\/strong>s \u0111\u01b0\u1ee3c ph\u00e2n lo\u1ea1i theo globin b\u1ecb thi\u1ebfu h\u1ee5t. Hai d\u1ea1ng ch\u00ednh li\u00ean quan \u0111\u1ebfn vi\u1ec7c s\u1ea3n xu\u1ea5t b\u1ecb suy gi\u1ea3m ho\u1eb7c kh\u00f4ng \u1ed5n \u0111\u1ecbnh c\u1ee7a \u03b1-globin g\u00e2y ra b\u1ec7nh \u03b1-thalassemia<\/strong> ho\u1eb7c \u03b2-globin g\u00e2y ra b\u1ec7nh \u03b2-thalassemia<\/strong>. v\u1ec1 m\u1eb7t l\u00e2m s\u00e0ng, ch\u00fang c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c chia th\u00e0nh ph\u1ee5 thu\u1ed9c truy\u1ec1n m\u00e1u v\u00e0 kh\u00f4ng ph\u1ee5 thu\u1ed9c truy\u1ec1n m\u00e1u (Taher, 2018).<\/p>\n

Alpha Thalassemia<\/h2>\n
Hai gen \u03b1-globin, HBA1 v\u00e0 HBA2, \u0111\u1ec1u \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 16. Do b\u1ed9 nhi\u1ec5m s\u1eafc th\u1ec3 l\u01b0\u1ee1ng b\u1ed9i ch\u1ee9a t\u1ed5ng c\u1ed9ng 4 gen \u03b1-globin, n\u00ean s\u1ef1 di truy\u1ec1n c\u1ee7a \u03b1- thalassemia ph\u1ee9c t\u1ea1p h\u01a1n \u03b2-thalassemia (Piel, 2014). M\u1ed9t s\u1ed1 ki\u1ec3u gen v\u00e0 ki\u1ec3u h\u00ecnh c\u00f3 th\u1ec3 c\u00f3 trong Table 59-4. <\/b>C\u00e1c gen \u03b3-globin \u0111\u01b0\u1ee3c nh\u00e2n \u0111\u00f4i t\u01b0\u01a1ng t\u1ef1. T\u01b0\u01a1ng \u1ee9ng, ki\u1ec3u gen b\u00ecnh th\u01b0\u1eddng c\u1ee7a t\u1ebf b\u00e0o l\u01b0\u1ee1ng b\u1ed9i c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c bi\u1ec3u th\u1ecb l\u00e0 \u03b1\u03b1 \/ \u03b1\u03b1 v\u00e0 \u03b3\u03b3 \/ \u03b3\u03b3. Trong hai nh\u00f3m ch\u00ednh c\u1ee7a c\u00e1c y\u1ebfu t\u1ed1 quy\u1ebft \u0111\u1ecbnh \u03b1-thalassemia, \u03b1\u00b0 – thalassemia l\u00e0 \u0111\u1ed9t bi\u1ebfn c\u1ee7a c\u1ea3 hai gen t\u1eeb m\u1ed9t nhi\u1ec5m s\u1eafc th\u1ec3 (\u2014 \/ \u03b1\u03b1), trong khi \u03b1* – thalassemia l\u00e0 \u0111\u1ed9t bi\u1ebfn m\u1ed9t gen t\u1eeb m\u1ed9t alen (-\u03b1 \/ \u03b1\u03b1 d\u1ecb h\u1ee3p t\u1eeb) ho\u1eb7c t\u1eeb c\u00e1 hai alen (-\u03b1 \/ -\u03b1 \u0111\u1ed3ng h\u1ee3p t\u1eed).<\/p>\n
T\u1ea7n su\u1ea5t t\u01b0\u01a1ng \u0111\u1ed1i c\u1ee7a c\u00e1c lo\u1ea1i \u03b1-thalassemia kh\u00e1c nhau \u0111\u00e1ng k\u1ec3 gi\u1eefa c\u00e1c nh\u00f3m ch\u1ee7ng t\u1ed9c v\u00e0 t\u1ea5t c\u1ea3 \u0111\u1ec1u g\u1eb7p \u1edf ng\u01b0\u1eddi ch\u00e2u \u00c1. \u1edc nh\u1eefng ng\u01b0\u1eddi g\u1ed1c Phi, m\u1eb7c d\u00f9 b\u1ec7nh \u03b1- thalassemia th\u1ec3 nh\u1eb9 c\u00f3 t\u1ea7n su\u1ea5t x\u1ea5p x\u1ec9 2%, b\u1ec7nh hemoglobin H r\u1ea5t hi\u1ebfm g\u1eb7p v\u00e0 b\u1ec7nh hemoglobin Bart kh\u00f4ng \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o. \u0110i\u1ec1u n\u00e0y l\u00e0 do ng\u01b0\u1eddi ch\u00e2u \u00c1 th\u01b0\u1eddng m\u1eafc b\u1ec7nh \u03b1\u00b0-thalassemia th\u1ec3 nh\u1eb9 di truy\u1ec1n v\u1edbi c\u1ea3 hai gen th\u01b0\u1eddng b\u1ecb m\u1ea5t t\u1eeb c\u00f9ng m\u1ed9t nhi\u1ec5m s\u1eafc th\u1ec3 (\u2014 \/ \u03b1\u03b1), trong khi ng\u01b0\u1eddi da \u0111en th\u01b0\u1eddng m\u1eafc b\u1ec7nh \u03b1+- thalassemia th\u1ec3 nh\u1eb9, trong \u0111\u00f3 m\u1ea5t m\u1ed9t gen tr\u00ean m\u1ed7i nhi\u1ec5m s\u1eafc th\u1ec3 (-\u03b1 \/ -\u03b1 ).<\/p>\n
TABLE 59-4<\/p>\n
Genotypes and Phenotypes of \u03b1-Thalassemia Syndromes<\/p>\n\n\n\n\n\n\n\n\n
Genotype<\/td>\n Genotype<\/td>\n Phenotype<\/td>\n<\/tr>\n
Normal<\/td>\n \u03b1\u03b1\/\u03b1\u03b1<\/td>\n Normal<\/td>\n<\/tr>\n
\u03b1-Thalassemia heterozygote<\/td>\n -\u03b1\/\u03b1\u03b1<\/p>\n
\u03b1\u03b1\/-\u03b1<\/td>\n
Normal; silent carrier<\/td>\n<\/tr>\n
\u03b1-Thalassemia homozygotea \u03b1o-Thalassemia heterozygoteb<\/td>\n -\u03b1\/-\u03b1<\/p>\n
\u2013\/\u03b1\u03b1<\/td>\n
\u03b1-Thalassemia minor\u2014mild hypochromic, microcytic anemia<\/td>\n<\/tr>\n
Compound heterozygous \u03b1\u00b0\/\u03b1*<\/td>\n -\/-\u03b1<\/td>\n Hb H (\u03b2_{4<\/sub>) disease with moderate to severe hemolytic anemia<\/td>\n<\/tr>\n}
Homozygous \u03b1-thalassemia<\/td>\n <\/td>\n Hb Bart (\u03b3_{4<\/sub>) disease, hydrops fetalis<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\naMore common in African Americans. bMore common in Asian Americans.<\/p>\n
Thai k\u1ef3<\/h2>\nC\u00e1c kh\u00eda c\u1ea1nh s\u1ea3n khoa quan tr\u1ecdng c\u1ee7a m\u1ed9t s\u1ed1 h\u1ed9i ch\u1ee9ng \u03b1-thalassemia ph\u1ee5 thu\u1ed9c v\u00e0o s\u1ed1 l\u01b0\u1ee3ng gen b\u1ecb m\u1ea5t \u1edf thai ph\u1ee5. M\u1ee9c \u0111\u1ed9 n\u1eb7ng tr\u00ean l\u00e2m s\u00e0ng t\u01b0\u01a1ng quan ch\u1eb7t ch\u1ed7 v\u1edbi m\u1ee9c \u0111\u1ed9 suy gi\u1ea3m t\u1ed5ng h\u1ee3p \u03b1-globin. Ng\u01b0\u1eddi mang b\u1ec7nh th\u1ec3 \u1ea9n v\u1edbi m\u1ea5t m\u1ed9t gen c\u00f3 th\u1ec3 li\u00ean quan \u0111\u1ebfn thi\u1ebfu m\u00e1u nh\u1eb9 h\u1ed3ng c\u1ea7u nh\u1ecf (Andolina, 2020). M\u1ea5t hai gen g\u00e2y ra b\u1ec7nh \u03b1-thalassemia th\u1ec3 nh\u1eb9<\/strong> \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi thi\u1ebfu m\u00e1u h\u1ed3ng c\u1ea7u nh\u1ecf nh\u01b0\u1ee3c s\u1eafc t\u1eeb m\u1ee9c \u0111\u1ed9 r\u1ea5t nh\u1eb9 \u0111\u1ebfn v\u1eeba. \u0110i\u1ec1u n\u00e0y l\u00e0 do \u03b1\u00b0- ho\u1eb7c \u03b1\u2019 -thalassemia trait, v\u00e0 do \u0111\u00f3 kicu gcn t\u01b0\u01a1ng \u1ee9ng c\u00f3 th\u1ec3 l\u00e0 \u2014 \/ \u03b1\u03b1 ho\u1eb7c -\u03b1 \/ -\u03b1. Ch\u1ec9 c\u00f3 th\u1ec3 ph\u00e2n bi\u1ec7t b\u1eb1ng ph\u00e2n t\u00edch DNA (Piel, 2014). B\u1edfi v\u00ec kh\u00f4ng c\u00f3 b\u1ea5t th\u01b0\u1eddng l\u00e2m s\u00e0ng n\u00e0o kh\u00e1c \u0111i k\u00e8m v\u1edbi c\u00e1 hai d\u1ea1ng \u03b1- thalassemia th\u1ec3 nh\u1eb9<\/strong>, n\u00f3 th\u01b0\u1eddng kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n v\u00e0 th\u01b0\u1eddng kh\u00f4ng g\u00e2y h\u1eadu qu\u1ea3 cho m\u1eb9 (Hanprasertpong, 2013). Thai nhi m\u1eafc c\u00e1c d\u1ea1ng thalassemia th\u1ec3 nh\u1eb9 n\u00e0y s\u1ebd c\u00f3 hemoglobin Bart (\u03b34) khi sinh, nh\u01b0ng khi n\u1ed3ng \u0111\u1ed9 c\u1ee7a n\u00f3 gi\u1ea3m l\u1ea1i kh\u00f4ng b\u1ecb thay th\u1ebf b\u1eb1ng hemoglobin H (\u03b24). C\u00e1c t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u nh\u1ecf v\u00e0 nh\u01b0\u1ee3c s\u1eafc, v\u00e0 n\u1ed3ng \u0111\u1ed9 hemoglobin b\u00ecnh th\u01b0\u1eddng cho \u0111en gi\u00e1m nh\u1eb9.<\/p>\n
B\u1ec7nh Hemoglobin H (\u03b24) l\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a t\u00ecnh tr\u1ea1ng d\u1ecb h\u1ee3p t\u1eed k\u00e9p (X\u00b0- c\u1ed9ng v\u1edbi \u03b1+- thalassemia v\u1edbi s\u1ef1 m\u1ea5t ba trong bon gen alpha (\u2014 \/ – \u03b1). Ch\u1ec9 c\u00f3 m\u1ed9t gen a globin ch\u1ee9c n\u0103ng tr\u00ean m\u1ed7i b\u1ed9 gen l\u01b0\u1ee1ng b\u1ed9i, tr\u1ebb s\u01a1 sinh s\u00e8 c\u00f3 h\u1ed3ng c\u1ea7u b\u1ea5t th\u01b0\u1eddng ch\u1ee9a c\u00e1 hemoglobin Bart (\u03b34), hemoglobin H (\u03b24) v\u00e0 hemoglobin A. Trong ba lo\u1ea1i n\u00e0y hemoglobin Bart (\u03b34) v\u00e0 hemoglobin H (\u03b24) thai nhi v\u1eadn chuy\u1ec3n oxy k\u00e9m. Tr\u1ebb s\u01a1 sinh c\u00f3 v\u1ebb b\u00ecnh th\u01b0\u1eddng nh\u01b0ng s\u1edbm b\u1ecb thi\u1ebfu m\u00e1u tan m\u00e1u<\/strong> v\u00ec h\u1ea7u h\u1ebft hemoglobin Bart (\u03b34) \u0111\u01b0\u1ee3c thay th\u1ebf b\u1eb1ng hemoglobin H (\u03b24). C\u00d3 ng\u01b0\u1eddi l\u1eddn, vi\u1ec7c s\u1ea3n xu\u1ea5t hemoglobin A th\u1ea5p d\u1eabn \u0111\u1ebfn thi\u1ebfu m\u00e1u t\u1eeb trung b\u00ecnh \u0111en n\u1eb7ng v\u00e0 th\u01b0\u1eddng tr\u1ea7m tr\u1ecdng h\u01a1n trong thai k\u1ef3.<\/p>\n
S\u1ef1 th\u1eeba h\u01b0\u1edfng c\u1ea3 4 gen \u03b1-globin b\u1ea5t th\u01b0\u1eddng g\u00e2y ra b\u1ec7nh \u03b1-thalassemia \u0111\u1ed3ng h\u1ee3p t\u1eed, c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 b\u1ec7nh Hb Bart v\u00e0 b\u1ec7nh alpha thalassemia the n\u1eb7ng. S\u1ef1 s\u1ea3n xu\u1ea5t Hemoglobin Bart (\u03b34) chi\u1ebfm \u01b0u th\u1ebf. Hemoglobin Bart n\u00e0y c\u00f3 \u00e1i l\u1ef1c v\u1edbi oxy t\u0103ng l\u00ean \u0111\u00e1ng k\u1ec3 nh\u1eefng kh\u1ea3 n\u0103ng v\u1eadn chuy\u1ec3n oxy \u0111\u1ebfn c\u00e1c c\u01a1 quan \u0111\u00edch k\u00e9m v\u00e0 kh\u00f4ng t\u01b0\u01a1ng th\u00edch v\u1edbi kh\u1ea3 n\u0103ng s\u1ed1ng k\u00e9o d\u00e0i. Nh\u1eefng thai nhi n\u00e0y b\u1ecb ch\u1ebft l\u01b0u ho\u1eb7c ph\u00f9 v\u00e0 th\u01b0\u1eddng ch\u1ebft ngay sau sinh.<\/p>\n
Si\u00eau \u00e2m \u0111o chi s\u1ed1 tim-l\u1ed3ng ng\u1ef1c thai nhi l\u00fac 12 \u0111\u1ebfn 13 tu\u1ea7n tu\u1ed5i c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh nh\u1eefng thai nhi b\u1ecb \u1ea3nh h\u01b0\u01a1ng (Lam, 1999; Zhen, 2015). Si\u00eau \u00e2m \u0111\u00e1nh gi\u00e1 hi\u1ec7u su\u1ea5t c\u01a1 tim – ch\u1ec9 s\u1ed1 Tei – \u1edf n\u1eeda \u0111\u1ea7u thai k\u1ef3 \u0111\u00e3 \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u. Nh\u1eefng thay \u0111\u1ed5i tr\u01b0\u1edbc khi ph\u00f9 thai \u1edf thai nhi b\u1ecb \u1ea3nh h\u01b0\u1eddng (Luewan, 2013). C\u00e1c x\u00e9t nghi\u1ec7m kh\u00f4ng x\u00e2m l\u1ea5n n\u00e0y c\u00f3 th\u1ec3 h\u1ed7 tr\u1ee3 trong vi\u1ec7c t\u01b0 v\u1ea5n thai k\u1ef3.<\/p>\n
Beta Thalassemia<\/h2>\nB\u1ec7nh \u03b2-thalassemias b\u1eaft ngu\u1ed3n t\u1eeb s\u1ef1 suy gi\u1ea3m s\u1ea3n xu\u1ea5t \u03b2-globin ho\u1eb7c s\u1ef1 kh\u00f4ng \u1ed5n \u0111\u1ecbnh c\u1ee7a a globin. C\u00e1c gen m\u00e3 h\u00f3a ki\u1ec3m so\u00e1t t\u1ed5ng h\u1ee3p \u03b2-globin n\u1eb1m trong c\u1ee5m gen \u03b4yP- tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 11 (Ch\u01b0\u01a1ng 7). H\u01a1n 150 d\u1ed9t bicn di\u00eam trong gen \u03b2-globin l\u00e0 \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 (Weatherall, 2010). Trong b\u1ec7nh \u03b2- thalassemia, s\u1ea3n xu\u1ea5t \u03b2-globin gi\u1ea3m v\u00e0 \u03b1-globin d\u01b0 th\u1eeba g\u00e2y t\u1ed5n th\u01b0\u01a1ng m\u00e0ng t\u1ebf b\u00e0o. C\u00e1c th\u00f4 b\u1ec7nh \u03b2-thalassemias kh\u00e1c b\u1eaft ngu\u1ed3n t\u1eeb s\u1ef1 kh\u00f4ng \u1ed5n \u0111\u1ecbnh c\u1ee7a \u03b1-globin (Kihm, 2002).<\/p>\n
Trait d\u1ecb h\u1ee3p t\u1eed l\u00e0 b\u1ec7nh \u03b2-thalassemia th\u1ec3 nh\u1eb9 v\u00e0 th\u01b0\u1eddng g\u1eb7p nh\u1ea5t c\u00f3 n\u1ed3ng \u0111\u1ed9 hemoglobin A2 t\u00e0ng cao. Hemoglobin n\u00e0y bao g\u1ed3m hai \u03b1- v\u00e0 hai \u03b4-globins, v\u00e0 n\u1ed3ng \u0111\u1ed9 th\u01b0\u1eddng > 3,5 %. Hemoglobin – bao g\u1ed3m hai \u03b1- v\u00e0 hai \u03b3-globins – c\u0169ng th\u01b0\u1eddng c\u00f3 n\u1ed3ng \u0111\u1ed9 > 2 %. M\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh p-thalassemia d\u1ecb h\u1ee3p t\u1eed th\u1ec1 nh\u1eb9 kh\u00f4ng b\u1ecb thi\u1ebfu m\u00e1u, v\u00e0 nh\u1eefng b\u1ec7nh nh\u00e2n kh\u00e1c b\u1ecb thi\u1ebfu m\u00e1u t\u1eeb nh\u1eb9 \u0111\u1ebfn trung b\u00ecnh \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi h\u1ed3ng c\u1ea7u nh\u1ecf v\u00e0 nh\u01b0\u1ee3c s\u1eafc.<\/p>\n
B\u1ec7nh \u03b2-thalassemia \u0111\u1ed3ng h\u1ee3p t\u1eed – c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 \u03b2 -thalassemia the n\u1eb7ng ho\u1eb7c thi\u1ebfu m\u00e1u Cooley – l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n nghi\u00eam tr\u1ecdng v\u00e0 th\u01b0\u1eddng g\u00e2y t\u1eeb vong. T\u00ecnh tr\u1ea1ng tan m\u00e1u \u0111i\u1ec1n ra d\u1eef d\u1ed9i v\u00e0 d\u1eabn \u0111\u1ebfn thi\u1ebfu m\u00e1u n\u1eb7ng. Nhi\u00eau b\u1ec7nh nh\u00e2n tr\u1edf n\u00ean ph\u1ee5 thu\u1ed9c v\u00e0o truy\u1ec1n m\u00e1u, v\u00e0 th\u1eeba s\u1eaft sau \u0111\u00f3, c\u00f9ng v\u1edbi vi\u1ec7c h\u1ea5p th\u1ee5 s\u1eaft qua \u0111\u01b0\u1eddng ti\u00eau h\u00f3a nhi\u1ec1u h\u01a1n b\u00ecnh th\u01b0\u1eddng, d\u1eabn \u0111\u1ebfn t\u00ecnh tr\u1ea1ng \u1ee9 s\u1eaft, g\u00e2y t\u1eed vong trong nhi\u1ec1u tr\u01b0\u1eddng h\u1ee3p. M\u1ed9t d\u1ea1ng d\u1ecb h\u1ee3p t\u1eed c\u1ee7a b\u1ec7nh \u03b2-thalassemia c\u00f3 bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng l\u00e0 thalassemia th\u1ec3 trung gian g\u00e2y thi\u1ebfu m\u00e1u m\u1ee9c \u0111\u1ed9 trung b\u00ecnh.<\/p>\n
M\u1ed9t s\u1ed1 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb \u0111i\u1ec1u tr\u1ecb b\u1ec7nh \u03b2-thalassemia. c\u1ea5y gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c \u0111\u00e0 \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb b\u1ec7nh \u03b2-thalassemia th\u1ec3 n\u1eb7ng<\/strong> (Jagannath, 2014). C\u00e1c quan s\u00e1t s\u01a1 b\u1ed9 cho th\u1ea5y r\u1eb1ng k\u1ebft h\u1ee3p thalidomide v\u00e0 hydroxyurea – c\u00e0 hai \u0111\u1ec1u ch\u1ed1ng ch\u1ec9 \u0111\u1ecbnh trong thai k\u1ef3 – c\u00f3 th\u1ec3 c\u00f3 l\u1ee3i trong vi\u1ec7c t\u0103ng c\u01b0\u1eddng s\u1ea3n xu\u1ea5t hemoglobin (Shah, 2020). \u0110\u01b0a m\u1ed9t gen c\u00f3 lent!viral vector v\u00e0o \u03b2-globin \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng \u0111\u1ec3 truy\u1ec1n c\u00e1c t\u1ebf b\u00e0o g\u1ed1c t\u1ee7y x\u01b0\u01a1ng \u0111\u00e3 thu ho\u1ea1ch (Harrison, 2019). Cu\u1ed1i c\u00f9ng, luspatercept – m\u1ed9t protein dung h\u1ee3p t\u00e1i t\u1ed5 h\u1ee3p – c\u00f3 th\u1ec3 t\u0103ng c\u01b0\u1eddng s\u1ef1 tr\u01b0\u1edfng th\u00e0nh c\u1ee7a h\u1ed3ng c\u1ea7u \u0111\u1ec3 gi\u1ea3m nhu c\u1ea7u truy\u1ec1n m\u00e1u (Cappellini, 2020).<\/p>\n
Thai k\u1ef3<\/h2>\nB\u1ed5 sung s\u1eaft v\u00e0 folate cho t\u1ea5t c\u1ea3 thai ph\u1ee5 mang b\u1ec7nh. Nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh \u03b2- thalassemia th\u1ec3 nh\u1eb9 c\u00f3 th\u1ec3 b\u1ecb thi\u1ebfu m\u00e1u nh\u1eb9 khi mang thai (Charoenboon, 2016). Nguy\u00ean nh\u00e2n l\u00e0 do qu\u00e1 tr\u00ecnh t\u1ea1o h\u1ed3ng c\u1ea7u kh\u00f4ng hi\u1ec7u qu\u00e1 ch\u1ee9 kh\u00f4ng ph\u1ea3i do tan m\u00e1u. Figure 59-3 <\/b>cho th\u1ea5y th\u1eddi gian s\u1ed1ng c\u1ee7a t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u \u1edf thai ph\u1ee5 m\u1eafc b\u1ec7nh p thalassemia th\u1ec3 nh\u1eb9 t\u01b0\u01a1ng \u0111\u01b0\u01a1ng so v\u1edbi thai ph\u1ee5 b\u00ecnh th\u01b0\u1eddng. \u1ede m\u1ed9t s\u1ed1 thai ph\u1ee5c, t\u00ecnh tr\u1ea1ng thi\u1ebfu m\u00e1u s\u1ebd tr\u1ea7m tr\u1ecdng h\u01a1n v\u00ec s\u1ef1 t\u1ea1o h\u1ed3ng c\u1ea7u h\u01a1i b\u1ea5t th\u01b0\u1eddng k\u00e8m theo s\u1ef1 gia t\u0103ng th\u1ec3 t\u00edch huy\u1ebft t\u01b0\u01a1ng b\u00ecnh th\u01b0\u1eddng. Thai ch\u1eadm t\u0103ng tr\u01b0\u01a1ng c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh thalassemia th\u1ec3 nh\u1eb9 (Vafaei, 2020).<\/p>\n
FIGURE 59-3<\/b><\/p>\n
Erythrocyte-survival times with \u03b2-thalassemia minor (black solid line} are comparable to those of normal red cells (shaded area).<\/figcaption><\/figure>\nThalassemia th\u1ec3 n\u1eb7ng v\u00e0 m\u1ed9t s\u1ed1 th\u1ec3 n\u1eb7ng kh\u00e1c kh\u00f4ng th\u01b0\u1eddng g\u1eb7p trong thai k\u1ef3 tr\u01b0\u1edbc khi c\u00f3 s\u1ef1 ra \u0111\u1eddi c\u1ee7a li\u1ec7u ph\u00e1p truy\u1ec1n m\u00e1u v\u00e0 th\u1ea3i s\u1eaft. Trong m\u1ed9t t\u1ed5ng quan, 63 tr\u01b0\u1eddng h\u1ee3p mang thai v\u1edbi c\u00e1ch x\u1eed tr\u00ed nh\u01b0 v\u1eady \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o v\u00e0 kh\u00f4ng c\u00f3 bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng (Aessopos, 1999; Daskalakis, 1998). Mang thai \u0111\u01b0\u1ee3c coi l\u00e0 kh\u00e1 an to\u00e0n n\u1ebfu ch\u1ee9c n\u0103ng tim c\u1ee7a m\u1eb9 b\u00ecnh th\u01b0\u1eddng. Truy\u1ec1n m\u00e1u trong su\u1ed1t thai k\u1ef3 \u0111\u1ec3 duy tr\u00ec n\u1ed3ng \u0111\u1ed9 hemoglobin \u1edf m\u1ee9c 10 g\/dL. K\u1ebft h\u1ee3p v\u1edbi theo d\u00f5i s\u1ef1 t\u0103ng tr\u01b0\u1edfng c\u1ee7a thai nhi (American College of Obstetricians and Gynecologists, 2019b).<\/p>\n
Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh<\/h2>\nC\u00f3 th\u1ec3 ch\u1ea9n \u0111o\u00e1n \u03b1-thalassemia th\u1ec3 n\u1eb7ng c\u1ee7a thai nhi bang ph\u00e2n t\u00edch DNA s\u1eed d\u1ee5ng c\u00e1c k\u1ef9 thu\u1eadt ph\u00e2n t\u01b0 (Piel, 2014). Ch\u1ea9n \u0111o\u00e1n hemoglobin Bart (\u03b34) thai nhi \u0111\u00e3 \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 b\u1eb1ng k\u1ef9 thu\u1eadt \u0111i\u1ec7n di mao m\u1ea1ch ho\u1eb7c s\u1eafc k\u00fd l\u1ecfng hi\u1ec7u n\u0103ng cao (Sirichotiyakul, 2009). X\u00e9t nghi\u1ec7m di truy\u1ec1n ph\u00e2n t\u01b0 \u0111\u1ed1i v\u1edbi HBA1 v\u00e0 HBA2 x\u00e1c \u0111\u1ecbnh 90% tr\u01b0\u1eddng h\u1ee3p m\u1ea5t gcn v\u00e0 10% \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m \u1edf nh\u1eefng ng\u01b0\u1eddi b\u1ecb \u1ea3nh h\u01b0\u1edfng (Galanello, 201 Ib).<\/p>\n
V\u00ec b\u1ec7nh \u03b2-thalassemia th\u1ec3 n\u1eb7ng do nhi\u1ec1u \u0111\u1ed9t bi\u1ebfn g\u00e2y ra n\u00ean vi\u1ec7c ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh r\u1ea5t kh\u00f3 kh\u0103n. \u0110\u1ed1i v\u1edbi m\u1ed9t c\u00e1 th\u1ec3, c\u1ea7n ph\u00e2n t\u00edch \u0111\u1ed9t bi\u1ebfn m\u1ee5c ti\u00eau tr\u01b0\u1edbc khi x\u00e1c \u0111\u1ecbnh \u0111\u1ed9t bi\u1ebfn gia \u0111\u00ecnh. Ph\u00e2n t\u00edch \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n v\u1edbi sinh thi\u1ebft gai nhau v\u00e0 c\u00e1c k\u1ef9 thu\u1eadt kh\u00e1c \u0111\u01b0\u1ee3c th\u1ea3o lu\u1eadn trong Ch\u01b0\u01a1ng 14. X\u00e9t nghi\u1ec7m kh\u00f4ng x\u00e2m l\u1ea5n s\u1eed d\u1ee5ng DNA t\u1ef1 do thai nhi d\u00f4 ch\u00e2n \u0111o\u00e1n b\u1ec7nh \u03b2-thalassemia \u0111\u00e3 \u0111\u01b0\u1ee3c m\u00f4 l\u00e1 (Xiong, 2015; Zhang, 2019). X\u00e9t nghi\u1ec7m di truy\u1ec1n ti\u1ec1n l\u00e0m t\u1ed5 cho ph\u00e9p x\u00e1c \u0111\u1ecbnh thai b\u1ecb \u1ea3nh h\u01b0\u01a1ng tr\u01b0\u1edbc khi chuy\u1ec3n ph\u00f4i nang.<\/p>\n","protected":false},"excerpt":{"rendered":"
Bi\u00ean d\u1ecbch B\u00e1c s\u0129 V\u0169 T\u00e0i nhathuocluuanh.H\u1ed8I CH\u1ee8NG THALASSEMIA (Williams Obstetrics, 26E) H\u00e0ng tr\u0103m \u0111\u1ed9t bi\u1ebfn \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn c\u00e1c gen ki\u1ec3m so\u00e1t s\u1ea3n xu\u1ea5t hemoglobin (Benz, 2018). M\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn trong s\u1ed1 n\u00e0y l\u00e0m suy gi\u1ea3m t\u1ed5ng h\u1ee3p m\u1ed9t ho\u1eb7c nhi\u1ec1u peptit globin b\u00ecnh th\u01b0\u1eddng v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn h\u1ed9i ch\u1ee9ng l\u00e2m […]\n","protected":false},"author":1,"featured_media":34070,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-34068","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-y-te-suc-khoe"],"acf":[],"_links":{"self":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts\/34068","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/comments?post=34068"}],"version-history":[{"count":0,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts\/34068\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/media\/34070"}],"wp:attachment":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/media?parent=34068"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/categories?post=34068"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/tags?post=34068"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}}

Genotype<\/td>\n	Genotype<\/td>\n	Phenotype<\/td>\n<\/tr>\n
Normal<\/td>\n	\u03b1\u03b1\/\u03b1\u03b1<\/td>\n	Normal<\/td>\n<\/tr>\n
\u03b1*-Thalassemia heterozygote<\/td>\n	-\u03b1\/\u03b1\u03b1<\/p>\n \u03b1\u03b1\/-\u03b1<\/td>\n	Normal; silent carrier<\/td>\n<\/tr>\n
\u03b1*-Thalassemia homozygotea \u03b1o-Thalassemia heterozygoteb<\/td>\n	-\u03b1\/-\u03b1<\/p>\n \u2013\/\u03b1\u03b1<\/td>\n	\u03b1-Thalassemia minor\u2014mild hypochromic, microcytic anemia<\/td>\n<\/tr>\n
Compound heterozygous \u03b1\u00b0\/\u03b1*<\/td>\n	-\/-\u03b1<\/td>\n	Hb H (\u03b2_{4<\/sub>) disease with moderate to severe hemolytic anemia<\/td>\n<\/tr>\n}
Homozygous \u03b1-thalassemia<\/td>\n	<\/td>\n	Hb Bart (\u03b3_{4<\/sub>) disease, hydrops fetalis<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\naMore common in African Americans. bMore common in Asian Americans.<\/p>\n Thai k\u1ef3<\/h2>\nC\u00e1c kh\u00eda c\u1ea1nh s\u1ea3n khoa quan tr\u1ecdng c\u1ee7a m\u1ed9t s\u1ed1 h\u1ed9i ch\u1ee9ng \u03b1-thalassemia ph\u1ee5 thu\u1ed9c v\u00e0o s\u1ed1 l\u01b0\u1ee3ng gen b\u1ecb m\u1ea5t \u1edf thai ph\u1ee5. M\u1ee9c \u0111\u1ed9 n\u1eb7ng tr\u00ean l\u00e2m s\u00e0ng t\u01b0\u01a1ng quan ch\u1eb7t ch\u1ed7 v\u1edbi m\u1ee9c \u0111\u1ed9 suy gi\u1ea3m t\u1ed5ng h\u1ee3p \u03b1-globin. Ng\u01b0\u1eddi mang b\u1ec7nh th\u1ec3 \u1ea9n v\u1edbi m\u1ea5t m\u1ed9t gen c\u00f3 th\u1ec3 li\u00ean quan \u0111\u1ebfn thi\u1ebfu m\u00e1u nh\u1eb9 h\u1ed3ng c\u1ea7u nh\u1ecf (Andolina, 2020). M\u1ea5t hai gen g\u00e2y ra b\u1ec7nh \u03b1-thalassemia th\u1ec3 nh\u1eb9<\/strong> \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi thi\u1ebfu m\u00e1u h\u1ed3ng c\u1ea7u nh\u1ecf nh\u01b0\u1ee3c s\u1eafc t\u1eeb m\u1ee9c \u0111\u1ed9 r\u1ea5t nh\u1eb9 \u0111\u1ebfn v\u1eeba. \u0110i\u1ec1u n\u00e0y l\u00e0 do \u03b1\u00b0- ho\u1eb7c \u03b1\u2019 -thalassemia trait, v\u00e0 do \u0111\u00f3 kicu gcn t\u01b0\u01a1ng \u1ee9ng c\u00f3 th\u1ec3 l\u00e0 \u2014 \/ \u03b1\u03b1 ho\u1eb7c -\u03b1 \/ -\u03b1. Ch\u1ec9 c\u00f3 th\u1ec3 ph\u00e2n bi\u1ec7t b\u1eb1ng ph\u00e2n t\u00edch DNA (Piel, 2014). B\u1edfi v\u00ec kh\u00f4ng c\u00f3 b\u1ea5t th\u01b0\u1eddng l\u00e2m s\u00e0ng n\u00e0o kh\u00e1c \u0111i k\u00e8m v\u1edbi c\u00e1 hai d\u1ea1ng \u03b1- thalassemia th\u1ec3 nh\u1eb9<\/strong>, n\u00f3 th\u01b0\u1eddng kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n v\u00e0 th\u01b0\u1eddng kh\u00f4ng g\u00e2y h\u1eadu qu\u1ea3 cho m\u1eb9 (Hanprasertpong, 2013). Thai nhi m\u1eafc c\u00e1c d\u1ea1ng thalassemia th\u1ec3 nh\u1eb9 n\u00e0y s\u1ebd c\u00f3 hemoglobin Bart (\u03b34) khi sinh, nh\u01b0ng khi n\u1ed3ng \u0111\u1ed9 c\u1ee7a n\u00f3 gi\u1ea3m l\u1ea1i kh\u00f4ng b\u1ecb thay th\u1ebf b\u1eb1ng hemoglobin H (\u03b24). C\u00e1c t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u nh\u1ecf v\u00e0 nh\u01b0\u1ee3c s\u1eafc, v\u00e0 n\u1ed3ng \u0111\u1ed9 hemoglobin b\u00ecnh th\u01b0\u1eddng cho \u0111en gi\u00e1m nh\u1eb9.<\/p>\n B\u1ec7nh Hemoglobin H (\u03b24) l\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a t\u00ecnh tr\u1ea1ng d\u1ecb h\u1ee3p t\u1eed k\u00e9p (X\u00b0- c\u1ed9ng v\u1edbi \u03b1+- thalassemia v\u1edbi s\u1ef1 m\u1ea5t ba trong bon gen alpha (\u2014 \/ – \u03b1). Ch\u1ec9 c\u00f3 m\u1ed9t gen a globin ch\u1ee9c n\u0103ng tr\u00ean m\u1ed7i b\u1ed9 gen l\u01b0\u1ee1ng b\u1ed9i, tr\u1ebb s\u01a1 sinh s\u00e8 c\u00f3 h\u1ed3ng c\u1ea7u b\u1ea5t th\u01b0\u1eddng ch\u1ee9a c\u00e1 hemoglobin Bart (\u03b34), hemoglobin H (\u03b24) v\u00e0 hemoglobin A. Trong ba lo\u1ea1i n\u00e0y hemoglobin Bart (\u03b34) v\u00e0 hemoglobin H (\u03b24) thai nhi v\u1eadn chuy\u1ec3n oxy k\u00e9m. Tr\u1ebb s\u01a1 sinh c\u00f3 v\u1ebb b\u00ecnh th\u01b0\u1eddng nh\u01b0ng s\u1edbm b\u1ecb thi\u1ebfu m\u00e1u tan m\u00e1u<\/strong> v\u00ec h\u1ea7u h\u1ebft hemoglobin Bart (\u03b34) \u0111\u01b0\u1ee3c thay th\u1ebf b\u1eb1ng hemoglobin H (\u03b24). C\u00d3 ng\u01b0\u1eddi l\u1eddn, vi\u1ec7c s\u1ea3n xu\u1ea5t hemoglobin A th\u1ea5p d\u1eabn \u0111\u1ebfn thi\u1ebfu m\u00e1u t\u1eeb trung b\u00ecnh \u0111en n\u1eb7ng v\u00e0 th\u01b0\u1eddng tr\u1ea7m tr\u1ecdng h\u01a1n trong thai k\u1ef3.<\/p>\n S\u1ef1 th\u1eeba h\u01b0\u1edfng c\u1ea3 4 gen \u03b1-globin b\u1ea5t th\u01b0\u1eddng g\u00e2y ra b\u1ec7nh \u03b1-thalassemia \u0111\u1ed3ng h\u1ee3p t\u1eed, c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 b\u1ec7nh Hb Bart v\u00e0 b\u1ec7nh alpha thalassemia the n\u1eb7ng. S\u1ef1 s\u1ea3n xu\u1ea5t Hemoglobin Bart (\u03b34) chi\u1ebfm \u01b0u th\u1ebf. Hemoglobin Bart n\u00e0y c\u00f3 \u00e1i l\u1ef1c v\u1edbi oxy t\u0103ng l\u00ean \u0111\u00e1ng k\u1ec3 nh\u1eefng kh\u1ea3 n\u0103ng v\u1eadn chuy\u1ec3n oxy \u0111\u1ebfn c\u00e1c c\u01a1 quan \u0111\u00edch k\u00e9m v\u00e0 kh\u00f4ng t\u01b0\u01a1ng th\u00edch v\u1edbi kh\u1ea3 n\u0103ng s\u1ed1ng k\u00e9o d\u00e0i. Nh\u1eefng thai nhi n\u00e0y b\u1ecb ch\u1ebft l\u01b0u ho\u1eb7c ph\u00f9 v\u00e0 th\u01b0\u1eddng ch\u1ebft ngay sau sinh.<\/p>\n Si\u00eau \u00e2m \u0111o chi s\u1ed1 tim-l\u1ed3ng ng\u1ef1c thai nhi l\u00fac 12 \u0111\u1ebfn 13 tu\u1ea7n tu\u1ed5i c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh nh\u1eefng thai nhi b\u1ecb \u1ea3nh h\u01b0\u01a1ng (Lam, 1999; Zhen, 2015). Si\u00eau \u00e2m \u0111\u00e1nh gi\u00e1 hi\u1ec7u su\u1ea5t c\u01a1 tim – ch\u1ec9 s\u1ed1 Tei – \u1edf n\u1eeda \u0111\u1ea7u thai k\u1ef3 \u0111\u00e3 \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u. Nh\u1eefng thay \u0111\u1ed5i tr\u01b0\u1edbc khi ph\u00f9 thai \u1edf thai nhi b\u1ecb \u1ea3nh h\u01b0\u1eddng (Luewan, 2013). C\u00e1c x\u00e9t nghi\u1ec7m kh\u00f4ng x\u00e2m l\u1ea5n n\u00e0y c\u00f3 th\u1ec3 h\u1ed7 tr\u1ee3 trong vi\u1ec7c t\u01b0 v\u1ea5n thai k\u1ef3.<\/p>\n Beta Thalassemia<\/h2>\nB\u1ec7nh \u03b2-thalassemias b\u1eaft ngu\u1ed3n t\u1eeb s\u1ef1 suy gi\u1ea3m s\u1ea3n xu\u1ea5t \u03b2-globin ho\u1eb7c s\u1ef1 kh\u00f4ng \u1ed5n \u0111\u1ecbnh c\u1ee7a a globin. C\u00e1c gen m\u00e3 h\u00f3a ki\u1ec3m so\u00e1t t\u1ed5ng h\u1ee3p \u03b2-globin n\u1eb1m trong c\u1ee5m gen \u03b4yP- tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 11 (Ch\u01b0\u01a1ng 7). H\u01a1n 150 d\u1ed9t bicn di\u00eam trong gen \u03b2-globin l\u00e0 \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 (Weatherall, 2010). Trong b\u1ec7nh \u03b2- thalassemia, s\u1ea3n xu\u1ea5t \u03b2-globin gi\u1ea3m v\u00e0 \u03b1-globin d\u01b0 th\u1eeba g\u00e2y t\u1ed5n th\u01b0\u01a1ng m\u00e0ng t\u1ebf b\u00e0o. C\u00e1c th\u00f4 b\u1ec7nh \u03b2-thalassemias kh\u00e1c b\u1eaft ngu\u1ed3n t\u1eeb s\u1ef1 kh\u00f4ng \u1ed5n \u0111\u1ecbnh c\u1ee7a \u03b1-globin (Kihm, 2002).<\/p>\n Trait d\u1ecb h\u1ee3p t\u1eed l\u00e0 b\u1ec7nh \u03b2-thalassemia th\u1ec3 nh\u1eb9 v\u00e0 th\u01b0\u1eddng g\u1eb7p nh\u1ea5t c\u00f3 n\u1ed3ng \u0111\u1ed9 hemoglobin A2 t\u00e0ng cao. Hemoglobin n\u00e0y bao g\u1ed3m hai \u03b1- v\u00e0 hai \u03b4-globins, v\u00e0 n\u1ed3ng \u0111\u1ed9 th\u01b0\u1eddng > 3,5 %. Hemoglobin – bao g\u1ed3m hai \u03b1- v\u00e0 hai \u03b3-globins – c\u0169ng th\u01b0\u1eddng c\u00f3 n\u1ed3ng \u0111\u1ed9 > 2 %. M\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh p-thalassemia d\u1ecb h\u1ee3p t\u1eed th\u1ec1 nh\u1eb9 kh\u00f4ng b\u1ecb thi\u1ebfu m\u00e1u, v\u00e0 nh\u1eefng b\u1ec7nh nh\u00e2n kh\u00e1c b\u1ecb thi\u1ebfu m\u00e1u t\u1eeb nh\u1eb9 \u0111\u1ebfn trung b\u00ecnh \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi h\u1ed3ng c\u1ea7u nh\u1ecf v\u00e0 nh\u01b0\u1ee3c s\u1eafc.<\/p>\n B\u1ec7nh \u03b2-thalassemia \u0111\u1ed3ng h\u1ee3p t\u1eed – c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 \u03b2 -thalassemia the n\u1eb7ng ho\u1eb7c thi\u1ebfu m\u00e1u Cooley – l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n nghi\u00eam tr\u1ecdng v\u00e0 th\u01b0\u1eddng g\u00e2y t\u1eeb vong. T\u00ecnh tr\u1ea1ng tan m\u00e1u \u0111i\u1ec1n ra d\u1eef d\u1ed9i v\u00e0 d\u1eabn \u0111\u1ebfn thi\u1ebfu m\u00e1u n\u1eb7ng. Nhi\u00eau b\u1ec7nh nh\u00e2n tr\u1edf n\u00ean ph\u1ee5 thu\u1ed9c v\u00e0o truy\u1ec1n m\u00e1u, v\u00e0 th\u1eeba s\u1eaft sau \u0111\u00f3, c\u00f9ng v\u1edbi vi\u1ec7c h\u1ea5p th\u1ee5 s\u1eaft qua \u0111\u01b0\u1eddng ti\u00eau h\u00f3a nhi\u1ec1u h\u01a1n b\u00ecnh th\u01b0\u1eddng, d\u1eabn \u0111\u1ebfn t\u00ecnh tr\u1ea1ng \u1ee9 s\u1eaft, g\u00e2y t\u1eed vong trong nhi\u1ec1u tr\u01b0\u1eddng h\u1ee3p. M\u1ed9t d\u1ea1ng d\u1ecb h\u1ee3p t\u1eed c\u1ee7a b\u1ec7nh \u03b2-thalassemia c\u00f3 bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng l\u00e0 thalassemia th\u1ec3 trung gian g\u00e2y thi\u1ebfu m\u00e1u m\u1ee9c \u0111\u1ed9 trung b\u00ecnh.<\/p>\n M\u1ed9t s\u1ed1 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb \u0111i\u1ec1u tr\u1ecb b\u1ec7nh \u03b2-thalassemia. c\u1ea5y gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c \u0111\u00e0 \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb b\u1ec7nh \u03b2-thalassemia th\u1ec3 n\u1eb7ng<\/strong> (Jagannath, 2014). C\u00e1c quan s\u00e1t s\u01a1 b\u1ed9 cho th\u1ea5y r\u1eb1ng k\u1ebft h\u1ee3p thalidomide v\u00e0 hydroxyurea – c\u00e0 hai \u0111\u1ec1u ch\u1ed1ng ch\u1ec9 \u0111\u1ecbnh trong thai k\u1ef3 – c\u00f3 th\u1ec3 c\u00f3 l\u1ee3i trong vi\u1ec7c t\u0103ng c\u01b0\u1eddng s\u1ea3n xu\u1ea5t hemoglobin (Shah, 2020). \u0110\u01b0a m\u1ed9t gen c\u00f3 lent!viral vector v\u00e0o \u03b2-globin \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng \u0111\u1ec3 truy\u1ec1n c\u00e1c t\u1ebf b\u00e0o g\u1ed1c t\u1ee7y x\u01b0\u01a1ng \u0111\u00e3 thu ho\u1ea1ch (Harrison, 2019). Cu\u1ed1i c\u00f9ng, luspatercept – m\u1ed9t protein dung h\u1ee3p t\u00e1i t\u1ed5 h\u1ee3p – c\u00f3 th\u1ec3 t\u0103ng c\u01b0\u1eddng s\u1ef1 tr\u01b0\u1edfng th\u00e0nh c\u1ee7a h\u1ed3ng c\u1ea7u \u0111\u1ec3 gi\u1ea3m nhu c\u1ea7u truy\u1ec1n m\u00e1u (Cappellini, 2020).<\/p>\n Thai k\u1ef3<\/h2>\nB\u1ed5 sung s\u1eaft v\u00e0 folate cho t\u1ea5t c\u1ea3 thai ph\u1ee5 mang b\u1ec7nh. Nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh \u03b2- thalassemia th\u1ec3 nh\u1eb9 c\u00f3 th\u1ec3 b\u1ecb thi\u1ebfu m\u00e1u nh\u1eb9 khi mang thai (Charoenboon, 2016). Nguy\u00ean nh\u00e2n l\u00e0 do qu\u00e1 tr\u00ecnh t\u1ea1o h\u1ed3ng c\u1ea7u kh\u00f4ng hi\u1ec7u qu\u00e1 ch\u1ee9 kh\u00f4ng ph\u1ea3i do tan m\u00e1u. Figure 59-3 <\/b>cho th\u1ea5y th\u1eddi gian s\u1ed1ng c\u1ee7a t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u \u1edf thai ph\u1ee5 m\u1eafc b\u1ec7nh p thalassemia th\u1ec3 nh\u1eb9 t\u01b0\u01a1ng \u0111\u01b0\u01a1ng so v\u1edbi thai ph\u1ee5 b\u00ecnh th\u01b0\u1eddng. \u1ede m\u1ed9t s\u1ed1 thai ph\u1ee5c, t\u00ecnh tr\u1ea1ng thi\u1ebfu m\u00e1u s\u1ebd tr\u1ea7m tr\u1ecdng h\u01a1n v\u00ec s\u1ef1 t\u1ea1o h\u1ed3ng c\u1ea7u h\u01a1i b\u1ea5t th\u01b0\u1eddng k\u00e8m theo s\u1ef1 gia t\u0103ng th\u1ec3 t\u00edch huy\u1ebft t\u01b0\u01a1ng b\u00ecnh th\u01b0\u1eddng. Thai ch\u1eadm t\u0103ng tr\u01b0\u01a1ng c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh thalassemia th\u1ec3 nh\u1eb9 (Vafaei, 2020).<\/p>\n FIGURE 59-3<\/b><\/p>\n Erythrocyte-survival times with \u03b2-thalassemia minor (black solid line} are comparable to those of normal red cells (shaded area).<\/figcaption><\/figure>\nThalassemia th\u1ec3 n\u1eb7ng v\u00e0 m\u1ed9t s\u1ed1 th\u1ec3 n\u1eb7ng kh\u00e1c kh\u00f4ng th\u01b0\u1eddng g\u1eb7p trong thai k\u1ef3 tr\u01b0\u1edbc khi c\u00f3 s\u1ef1 ra \u0111\u1eddi c\u1ee7a li\u1ec7u ph\u00e1p truy\u1ec1n m\u00e1u v\u00e0 th\u1ea3i s\u1eaft. Trong m\u1ed9t t\u1ed5ng quan, 63 tr\u01b0\u1eddng h\u1ee3p mang thai v\u1edbi c\u00e1ch x\u1eed tr\u00ed nh\u01b0 v\u1eady \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o v\u00e0 kh\u00f4ng c\u00f3 bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng (Aessopos, 1999; Daskalakis, 1998). Mang thai \u0111\u01b0\u1ee3c coi l\u00e0 kh\u00e1 an to\u00e0n n\u1ebfu ch\u1ee9c n\u0103ng tim c\u1ee7a m\u1eb9 b\u00ecnh th\u01b0\u1eddng. Truy\u1ec1n m\u00e1u trong su\u1ed1t thai k\u1ef3 \u0111\u1ec3 duy tr\u00ec n\u1ed3ng \u0111\u1ed9 hemoglobin \u1edf m\u1ee9c 10 g\/dL. K\u1ebft h\u1ee3p v\u1edbi theo d\u00f5i s\u1ef1 t\u0103ng tr\u01b0\u1edfng c\u1ee7a thai nhi (American College of Obstetricians and Gynecologists, 2019b).<\/p>\n Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh<\/h2>\nC\u00f3 th\u1ec3 ch\u1ea9n \u0111o\u00e1n \u03b1-thalassemia th\u1ec3 n\u1eb7ng c\u1ee7a thai nhi bang ph\u00e2n t\u00edch DNA s\u1eed d\u1ee5ng c\u00e1c k\u1ef9 thu\u1eadt ph\u00e2n t\u01b0 (Piel, 2014). Ch\u1ea9n \u0111o\u00e1n hemoglobin Bart (\u03b34) thai nhi \u0111\u00e3 \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 b\u1eb1ng k\u1ef9 thu\u1eadt \u0111i\u1ec7n di mao m\u1ea1ch ho\u1eb7c s\u1eafc k\u00fd l\u1ecfng hi\u1ec7u n\u0103ng cao (Sirichotiyakul, 2009). X\u00e9t nghi\u1ec7m di truy\u1ec1n ph\u00e2n t\u01b0 \u0111\u1ed1i v\u1edbi HBA1 v\u00e0 HBA2 x\u00e1c \u0111\u1ecbnh 90% tr\u01b0\u1eddng h\u1ee3p m\u1ea5t gcn v\u00e0 10% \u0111\u1ed9t bi\u1ebfn \u0111i\u1ec3m \u1edf nh\u1eefng ng\u01b0\u1eddi b\u1ecb \u1ea3nh h\u01b0\u1edfng (Galanello, 201 Ib).<\/p>\n V\u00ec b\u1ec7nh \u03b2-thalassemia th\u1ec3 n\u1eb7ng do nhi\u1ec1u \u0111\u1ed9t bi\u1ebfn g\u00e2y ra n\u00ean vi\u1ec7c ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh r\u1ea5t kh\u00f3 kh\u0103n. \u0110\u1ed1i v\u1edbi m\u1ed9t c\u00e1 th\u1ec3, c\u1ea7n ph\u00e2n t\u00edch \u0111\u1ed9t bi\u1ebfn m\u1ee5c ti\u00eau tr\u01b0\u1edbc khi x\u00e1c \u0111\u1ecbnh \u0111\u1ed9t bi\u1ebfn gia \u0111\u00ecnh. Ph\u00e2n t\u00edch \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n v\u1edbi sinh thi\u1ebft gai nhau v\u00e0 c\u00e1c k\u1ef9 thu\u1eadt kh\u00e1c \u0111\u01b0\u1ee3c th\u1ea3o lu\u1eadn trong Ch\u01b0\u01a1ng 14. X\u00e9t nghi\u1ec7m kh\u00f4ng x\u00e2m l\u1ea5n s\u1eed d\u1ee5ng DNA t\u1ef1 do thai nhi d\u00f4 ch\u00e2n \u0111o\u00e1n b\u1ec7nh \u03b2-thalassemia \u0111\u00e3 \u0111\u01b0\u1ee3c m\u00f4 l\u00e1 (Xiong, 2015; Zhang, 2019). X\u00e9t nghi\u1ec7m di truy\u1ec1n ti\u1ec1n l\u00e0m t\u1ed5 cho ph\u00e9p x\u00e1c \u0111\u1ecbnh thai b\u1ecb \u1ea3nh h\u01b0\u01a1ng tr\u01b0\u1edbc khi chuy\u1ec3n ph\u00f4i nang.<\/p>\n","protected":false},"excerpt":{"rendered":" Bi\u00ean d\u1ecbch B\u00e1c s\u0129 V\u0169 T\u00e0i nhathuocluuanh.H\u1ed8I CH\u1ee8NG THALASSEMIA (Williams Obstetrics, 26E) H\u00e0ng tr\u0103m \u0111\u1ed9t bi\u1ebfn \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn c\u00e1c gen ki\u1ec3m so\u00e1t s\u1ea3n xu\u1ea5t hemoglobin (Benz, 2018). M\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn trong s\u1ed1 n\u00e0y l\u00e0m suy gi\u1ea3m t\u1ed5ng h\u1ee3p m\u1ed9t ho\u1eb7c nhi\u1ec1u peptit globin b\u00ecnh th\u01b0\u1eddng v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn h\u1ed9i ch\u1ee9ng l\u00e2m […]\n","protected":false},"author":1,"featured_media":34070,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-34068","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-y-te-suc-khoe"],"acf":[],"_links":{"self":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts\/34068","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/comments?post=34068"}],"version-history":[{"count":0,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/posts\/34068\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/media\/34070"}],"wp:attachment":[{"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/media?parent=34068"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/categories?post=34068"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vnras.com\/drug\/wp-json\/wp\/v2\/tags?post=34068"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}}