C\u00e1c x\u00e9t nghi\u1ec7m \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh hemophilia<\/strong><\/h2>\nHi\u1ec7n t\u1ea1i, c\u00f3 hai lo\u1ea1i ch\u1ea9n \u0111o\u00e1n ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh xem m\u1ed9t ng\u01b0\u1eddi c\u00f3 ph\u1ea3i l\u00e0 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh hay kh\u00f4ng: x\u00e9t nghi\u1ec7m \u0111\u00f4ng m\u00e1u \u0111\u1ec3 \u0111o ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 \u0111\u00f4ng m\u00e1u v\u00e0 x\u00e9t nghi\u1ec7m di truy\u1ec1n s\u1eed d\u1ee5ng ph\u00e2n t\u00edch di truy\u1ec1n.<\/p>\n
\u00a0\u00a0 V\u1ec1 ch\u1ee9c n\u0103ng (ho\u1ea1t \u0111\u1ed9ng) c\u1ee7a c\u00e1c y\u1ebfu t\u1ed1 \u0111\u00f4ng m\u00e1u, ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 VIII ho\u1eb7c y\u1ebfu t\u1ed1 IX trong huy\u1ebft t\u01b0\u01a1ng c\u1ee7a ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng l\u00e0 100%. B\u1ec7nh nh\u00e2n \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1eafc b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng n\u1ebfu ho\u1ea1t \u0111\u1ed9ng d\u01b0\u1edbi 40%. Tuy nhi\u00ean, n\u1ebfu quan s\u00e1t th\u1ea5y ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 VIII gi\u1ea3m th\u00ec c\u1ea7n ph\u1ea3i x\u00e1c nh\u1eadn r\u1eb1ng kh\u00f4ng c\u00f3 s\u1ef1 b\u1ea5t th\u01b0\u1eddng n\u00e0o v\u1ec1 y\u1ebfu t\u1ed1 von Willebrand, b\u1edfi v\u00ec n\u1ed3ng \u0111\u1ed9 y\u1ebfu t\u1ed1 VIII c\u0169ng c\u00f3 th\u1ec3 b\u1ecb gi\u1ea3m trong b\u1ec7nh von Willebrand.<\/p>\n
\u00a0\u00a0 M\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng c\u1ee7a b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng c\u0169ng \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh b\u1edfi m\u1ee9c \u0111\u1ed9 ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 \u0111\u00f4ng m\u00e1u.<\/p>\n
\u00a0\u00a0 M\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng c\u1ee7a b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng<\/p>\n
B\u1ec7nh n\u1eb7ng: Gi\u00e1 tr\u1ecb th\u1ea5p nh\u1ea5t sau nhi\u1ec1u l\u1ea7n ki\u1ec3m tra ho\u1ea1t \u0111\u1ed9ng \u0111\u00f4ng m\u00e1u d\u01b0\u1edbi 1%<\/p>\n
Trung b\u00ecnh: Gi\u00e1 tr\u1ecb \u0111\u00e1y ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 \u0111\u00f4ng m\u00e1u t\u1eeb 1% tr\u1edf l\u00ean nh\u01b0ng d\u01b0\u1edbi 5%<\/p>\n
Tri\u1ec7u ch\u1ee9ng nh\u1eb9: Gi\u00e1 tr\u1ecb \u0111\u00e1y ho\u1ea1t \u0111\u1ed9ng c\u1ee7a y\u1ebfu t\u1ed1 \u0111\u00f4ng m\u00e1u 5% tr\u1edf l\u00ean 2 (Gi\u1edbi h\u1ea1n tr\u00ean l\u00e0 40%)<\/p>\n
X\u00e9t nghi\u1ec7m di truy\u1ec1n s\u1eed d\u1ee5ng ph\u00e2n t\u00edch di truy\u1ec1n c\u00f3 s\u1eb5n \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh \u0111\u00e1ng tin c\u1eady.<\/p>\n
\u3000X\u00e9t nghi\u1ec7m di truy\u1ec1n ch\u1ec9 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u1edf m\u1ed9t s\u1ed1 \u00edt b\u1ec7nh vi\u1ec7n c\u00f3 th\u1ec3 ti\u1ebfn h\u00e0nh nghi\u00ean c\u1ee9u \u0111\u1eb7c bi\u1ec7t v\u00e0 c\u1ea7n c\u00f3 s\u1ef1 h\u1ee3p t\u00e1c c\u1ee7a c\u00e1c th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh m\u1eafc b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng n\u00ean hi\u1ec7n nay vi\u1ec7c th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m di truy\u1ec1n kh\u00f4ng h\u1ec1 d\u1ec5 d\u00e0ng.<\/p>\n
\u3000Ph\u00e2n t\u00edch DNA theo ph\u1ea3n \u1ee9ng chu\u1ed7i polymerase (PCR) bao g\u1ed3m gen c\u1ee7a y\u1ebfu t\u1ed1 VIII ho\u1eb7c y\u1ebfu t\u1ed1 IX, c\u00f3 s\u1eb5n t\u1ea1i c\u00e1c trung t\u00e2m chuy\u00ean khoa, c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n tr\u1ea1ng th\u00e1i mang m\u1ea7m b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng A ho\u1eb7c B v\u00e0 ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh v\u1ec1 b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng A ho\u1eb7c B b\u1eb1ng c\u00e1ch l\u1ea5y m\u1eabu l\u00f4ng nhung m\u00e0ng \u0111\u1ec7m \u1edf th\u1eddi \u0111i\u1ec3m 12 tu\u1ea7n ho\u1eb7c ch\u1ecdc \u1ed1i \u1edf th\u1eddi \u0111i\u1ec3m 16 tu\u1ea7n. Th\u1ee7 thu\u1eadt n\u00e0y c\u00f3 0,5 \u0111\u1ebfn 1% nguy c\u01a1 s\u1ea9y thai. C\u00e1c nghi\u00ean c\u1ee9u v\u1ec1 DNA b\u00e0o thai t\u1ef1 do trong m\u00e1u m\u1eb9 \u0111\u00e3 cho th\u1ea5y tri\u1ec3n v\u1ecdng l\u00e0 m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p kh\u00f4ng x\u00e2m l\u1ea5n \u0111\u1ec3 s\u00e0ng l\u1ecdc b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng.<\/p>\n
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T\u00e0i li\u1ec7u tham kh\u1ea3o:<\/p>\n
\n- Hemophilia – C\u1ea9m nang MSD – Phi\u00ean b\u1ea3n d\u00e0nh cho chuy\u00ean gia<\/li>\n
- B\u1ec7nh Hemophilia \u2013 B\u1ec7nh vi\u1ec7n Huy\u1ebft h\u1ecdc v\u00e0 truy\u1ec1n m\u00e1u<\/li>\n
- \u0110i\u1ec1u tr\u1ecb d\u1ef1 ph\u00f2ng – hy v\u1ecdng c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh hemophilia \u2013 B\u1ed9 y t\u1ebf, c\u1ed5ng th\u00f4ng tin \u0111i\u1ec7n t\u1eed<\/li>\n
- \u8840\u53cb\u75c5\u306e\u691c\u67fbhttps:\/\/www.clubhaemophilia.jp\/about\/haemophilia\/examination.html<\/li>\n<\/ol>\n
T\u00e1c gi\u1ea3: TS Tr\u1ea7n Th\u1ecb Thanh Huy\u1ec1n<\/p>\n
Gi\u1ea3ng vi\u00ean khoa X\u00e9t Nghi\u1ec7m Y H\u1ecdc<\/p>\n
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