ĐẶC ĐIỂM KIỂU GEN VÀ KIỂU HÌNH HUYẾT HỌC BỆNH HEMOGLOBIN H KHÔNG MẤT ĐOẠN

Abstract

Background: 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/α^CSα) accounts for 63.16%, (--^SEA/α^c.2delTα) accounts for 31.58% and (--^SEA/α^QSα) 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.