Đặc điểm kiểu gen và kiểu hình huyết học bệnh Hemoglobin H không mất đoạn=Genotypes and hematological phenotypes analysis of non-deletional hemoglobin H disease

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Tác giả: Thị Hoàng Mỹ Lê, Thị Kiều Trang Nguyễn, Thị Thùy Dung Trần, Thành Trí Võ

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y dược học Cần Thơ, 2024

Mô tả vật lý: tr.166-173

Bộ sưu tập: Metadata

ID: 245155

Thêm vào giỏ

Sự kết hợp giữa các đột biến điểm với đột biến mất đoạn hai gen α-globin gây bệnh Hemoglobin H (HbH) không mất đoạn. Việc xác định chính xác bệnh HbH không mất đoạn liên quan đến các kiểu hình có lâm sàng nặng là rất cần thiết vì những đột biến này đã xuất hiện trong quần thể người Việt Nam. Mục tiêu nghiên cứu: Xác định kiểu gen và mô tả kiểu hình huyết học của bệnh Hemoglobin H không mất đoạn. Đối tượng và phương pháp nghiên cứu: Nghiên cứu mô tả cắt ngang trên 38 bệnh nhân HbH không mất đoạn tại Bệnh viện Huyết Học-Truyền Máu Thành phố Cần Thơ và Bệnh viện Trường Đại học Y Dược Cần Thơ từ tháng 12/2022 đến 08/2023. Kết quả: Tuổi trung bình bệnh nhân HbH không mất đoạn là 32,26 tuổi, nữ chiếm 81,58% và nam chiếm 18,42%. Kiểu gen chiếm tỷ lệ cao nhất là (--SEA/αCSα) với 63,16%, (--SEA/αc.2delTα) chiếm 31,58% và (--SEA/αQSα) chiếm 5,26%. Kết luận: Dựa vào hai kỹ thuật sinh học phân tử Gap-PCR và C-ARMS-PCR hơn 68% trường hợp bệnh HbH không mất đoạn đã xác định được kiểu gen. Các chỉ số: RBC, HGB, MCV, MCH giảm, RDW-CV tăng
thành phần HbA giảm, HbH và HbBart’s tăng, xuất hiện HbC và HbE
tỷ lệ hồng cầu lưới và thể vùi HbH tăng ở bệnh nhân HbH không mất đoạn.The interaction of the point mutations with the double α-globin gene deletion results in non-deletional Hemoglobin H (HbH) disease. Accurate detection of non-deletional HbH disease, which is associated with severe clinical phenotypes, is necessary as these mutations have appeared in the Vietnamese population. Objectives: To determine the genotypes and describing hematological phenotypes of non-deletional HbH disease. Materials and method: This cross-sectional descriptive study was conducted in 38 non-deletional HbH disease patients at Can Tho city Hematology-Blood Transfusion Hospital and Can Tho University of Medicine and Pharmacy Hospital from 12/2022 to 08/2023. Results: The average age of non-deletional HbH disease patients is 32.26 years old, women account for 81.58% and men account for 18.42%. The most frequently observed non-deletional HbH disease patient genotypes were (--SEA/αCSα) accounts for 63.16%, (--SEA/αc.2delTα) accounts for 31.58% and (--SEA/αQSα) accounts for 5.26%. Conclusion: Based on two molecular diagnostic tests Gap-PCR and C-ARMS-PCR, more than 68% of the non-deletional HbH cases were genetically characterised. Hematological indexes: RBC, HGB, MCV, MCH decreased, RDW-CV increased
HbA decreased, HbH and HbBart's increased, HbC and HbE appeared
the reticulocyte count and HbH inclusions increased in non-deletional HbH disease.

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