Đặc điểm xét nghiệm huyết học và gen globin ở cặp bố mẹ và thai nhi tại Viện Huyết học - Truyền máu Trung ương giai đoạn 2016

Đặc điểm xét nghiệm huyết học và gen globin ở cặp bố mẹ và thai nhi tại Viện Huyết học - Truyền máu Trung ương giai đoạn 2016 - 2020

0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Quốc Khánh Bạch, Thị Vân Hồng Đặng, Quốc Chính Dương, Thị Thanh Tâm Lê, Ngọc Dũng Nguyễn, Thị Thu Hà Nguyễn, Minh Nguyện Tạ, Hải Toàn Vũ

Ngôn ngữ: vie

Ký hiệu phân loại: 612.118 Biophysics and biological properties

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2022

Mô tả vật lý: 210-218

Bộ sưu tập: Metadata

ID: 500780

Thêm vào giỏ

Describe some characteristics of hematological tests and globin gene mutations of pregnant women and husbands
Determine the globin genotype of the fetus. Method: A crosssectional descriptive study, 399 couples were identified as carriers of thalassemia gene. Results: * Regarding hematological characteristics and globin gene mutations of parents: Among 399 couples (798 people) participating in the study, 237 (29.7%) carriers of α thalassemia gene, 369 (46.2%) carriers of β thalassemia gene, 118 (14.8%) carriers of the gene. HbE and 74 (9.3%) of the remaining people carried genes with a combination of α and β thalassemia mutations.The mean MCV values of the groups carrying phenotypes α+, α0, βE and β0 were 81.2fl, respectively
67.8fl
77.4fl and 64.7f
The mean value of MCH of groups carrying phenotypes α+, α0, βE and β0 is 26.5pg, respectively
21.5pg
25.4pg and 20.2pg
Carriers of the α thalassemia gene have a normal or slightly decreased HbA2 ratio. The group carrying the β thalassemia gene (β+, β0 and β thalassemia combined with α thalassemia) all had an average increase in HbA2 rate of 5%
* Regarding fetal globin gene mutation characteristics: 21.8% did not carry globin gene mutations, 55.2 % heterozygous (heterozygous carriers), 23% of fetuses are affected
With the α- thalassemia gene mutation, the --SEA mutation is the most common, the other mutations are less common: -α3.7, HbCs, -α4.2
detected 2 cases of rare mutation in Vietnamese (C2del T). There were 20 fetuses with very severe disease (Hb Bart's) with genotype --SEA/--SEA
With mutations in the β-thalassemia gene, 62 cases of severe disease in fetuses, the most common mutations are homozygous Cd41/42, homozygous Cd17, double heterozygous βCd17/βCd41/42. Detecting 3 common mutations that are common in Vietnam as well as in Southeast Asia are Cd17, Cd41/42 and Cd26.Mô tả một số đặc điểm xét nghiệm huyết học và đột biến gen globin của thai phụ và chồng
Xác định kiểu gen globin của thai nhi. Đối tượng và phương pháp: Nghiên cứu mô tả cắt ngang, 399 cặp vợ chồng đã được xác định đều là người mang gen thalassemia. Kết quả: * Về đặc điểm xét nghiệm huyết học và đột biến gen globin của bố mẹ: Trong 399 cặp vợ chồng (798 người) tham gia nghiên cứu có 237 (29,7%) người mang gen α thalassemia, 369 (46,2%) người mang gen β thalassemia, 118 (14,8%) người mang gen HbE và 74 (9,3%) người còn lại mang gen phối hợp các đột biến α và β thalassemia. Giá trị trung bình MCV của các nhóm mang kiểu hình α+, α0, βE và β0 lần lượt là 81,2fl
67,8fl
77,4fl và 64,7f
Giá trị trung bình MCH của các nhóm mang kiểu hình α+, α0, βE và β0 lần lượt là 26,5pg
21,5pg
25,4pg và 20,2pg
Người mang gen α thalassemia có tỉ lệ HbA2 bình thường hoặc giảm nhẹ. Nhóm mang gen β thalassemia (β+, β0 và β thalassemia phối hợp α thalassemia) đều có tỷ lệ HbA2 tăng trung bình là 5%
* Về đặc điểm đột biến gen globin của thai nhi: 21,8% không mang đột biến gen globin, 55,2% dị hợp tử (người lành mang gen bệnh), có 23% thai nhi bị bệnh
Với đột biến gen α-thalassemia, đột biến --SEA là phổ biến nhất, các đột biến khác ít gặp hơn: -α3.7, HbCs, -α4.2
phát hiện 2 trường hợp mang đột biến hiếm gặp ở người Việt Nam (C2del T). Có 20 thai nhi bị bệnh mức độ rất nặng (Hb Bart's) có kiểu gen -- SEA/--SEA
Với đột biến gen β-thalassemia, 62 trường hợp thai nhi bị bệnh mức độ nặng, phổ biến nhất là kiểu đột biến là Cd41/42 đồng hợp tử, Cd17 đồng hợp tử, dị hợp tử kép βCd17/βCd41/42. Phát hiện 3 loại đột biến phổ biến hay gặp Việt Nam cũng như tại khu vực Đông Nam Á là Cd17, Cd41/42 và Cd26.

1. Đọc trực tuyến

1. Đọc trực tuyến

Tạo bộ sưu tập với mã QR