Nghiên cứu một số đặc điểm huyết học và thành phần huyết sắc tố của người mang gen bệnh huyết sắc tố E

0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Quốc Khánh Bạch, Thị Hoa Hoàng, Xuân Hải Lê, Hà Thanh Nguyễn, Ngọc Dũng Nguyễn, Thị Thu Hà Nguyễn, Thị Vân Trần, Hải Toàn Vũ

Ngôn ngữ: vie

Ký hiệu phân loại: 616.97042 Other diseases

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

Mô tả vật lý: 201-209

Bộ sưu tập: Metadata

ID: 500779

Thêm vào giỏ

Mô tả đặc điểm một số chỉ số hồng cầu máu ngoại vi và thành phần huyết sắc tố ở người mang Huyết sắc tố E đơn thuần hoặc phối hợp đột biến gen α- thalassemia tại Viện Huyết học-Truyền máu TW. Đối tượng và phương pháp nghiên cứu: Mô tả cắt ngang trên 2221 người mang gen bệnh huyết sắc tố E (đột biến Cd26 (GAG>
AAG)) tại Viện Huyết học - Truyền máu TW. Kết quả: Lượng huyết sắc tố trung bình (Hb) của người mang HbE dị hợp tử (βE/β) và đồng hợp tử (βE/βE) lần lượt là 132,3g/L và 117,5g/L. MCV trung bình của của nhóm mang gen HbE dị hợp tử không và có kèm mang gen α-thal là 77,7 fL và 77 fL, với tỷ lệ các trường hợp có MCV <
80pg là 74,2% và 60,9%. MCV trung bình của nhóm mang gen HbE đồng hợp tử không và có kèm mang gen α-thal là 60,5 fL và 65,7fL với 100% trường hợp có MCV <
80fL. MCH trung bình của của nhóm mang gen HbE dị hợp tử không và có kèm mang gen α-thal là 24,9 pg và 24 pg, với tỷ lệ các trường hợp có MCH <
28pg là 99,7% và 99,8%. MCH trung bình của của nhóm mang gen HbE đồng hợp tử không và có kèm mang gen α-thal là 19,6 pg và 20,9pg với 100% trường hợp MCH <
27pg. 100% các trường hợp mang gen Cd26 (G>
A) HbE có tỷ lệ HbE trong thành phần huyết sắc tố. Tỷ lệ HbE <
39,25% được chẩn đoán mang gen HbE dị hợp tử, HbE >
58,35% được chẩn đoán HbE đồng hợp tử với độ nhạy và độ đặc hiệu 100%. Điểm cắt tỷ lệ HbE là 21,85% có giá trị phân biệt HbE dị hợp tử đơn thuần (trên ngưỡng) và HbE dị hợp tử có phối hợp với đột biến gen α- thal (dưới ngưỡng) với độ nhạy là 90,3%, độ đặc hiệu là 84,7%.To describe some red blood cell indices and hemoglobin typing in Hemoglobin E carriers solely or in combination with α- thalassemia at the NIHBT. Methodology: A cross-sectional study on 2221 hemoglobin E carriers (Cd26 mutation (GAG>
AAG)) at the NIHBT. Results: The mean hemoglobin (Hb) of heterozygous HbE (βE/β) and homozygous HbE (βE/βE) carriers were 132.3g/L and 117.5g/L, respectively. The mean MCV of heterozygous HbE carriers with and without α-thal carriers was 77.7 fL and 77 fL, with the proportion of cases with MCV <
80fL being 74.2% and 60.9%, respectively. The mean MCV of homozygous HbE carriers with and without α-thal carriers were 60.5 fL and 65.7fL, in which 100% of cases having MCV <
80fL. The mean MCH of the heterozygous HbE carrier with and without the α- thal carrier was 24.9 pg and 24 pg, and the rates of cases with MCH <
28fL being 99.7% and 99.8%, respectively. The mean MCH of homozygous HbE carriers with and without α- thal carriers was 19.6 pg and 20.9pg with 100% of cases MCH <
27pg. 100% of HbE carriers have HbE proportion in hemoglobin types. The proportion of HbE <
39.25% was diagnosed with a heterozygous HbE, HbE >
58.35% was diagnosed with homozygous HbE with 100% sensitivity and specificity. The HbE proportion cutoff of 21.85% is a valuable to differentiate between solely heterozygous HbE alone (above threshold) and heterozygous HbE combined with α-thal (below threshold) and has a sensitivity of 90,3%, the specificity of 84.7%.

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