Abstract
β-thalassemia is an inherited blood disorder that is the most common single-gene disorder worldwide and in Vietnam. This study reports an intermedia β thalassemia patient in a family from Northern Vietnam. The mother has compound heterozygous thalassemia presenting mutation of hemoglobin HBB: c.79G>A associated with HBB: c.-78A>G. The result indicates that the determination of molecular characterization of subjects presenting normal HbA2 level associated with abnormal red cell indices is needed for accurate diagnosis and improved genetic counseling.
Highlights
Thalassemia is an inherited disorder of autosomal disorders with a carrier prevalence of 5% globally [1]
Clinical severity forms the basis of β-thalassemia classification, as follows: a) β-thalassemia major, the severest type of β-thalassemia, with patients suffering from severe anemia and transfusion dependency, b) β-thalassemia intermedia, sporadic or no transfusions are required for anemia, c) β-thalassemia minor, called β-thalassemia trait, this form is usually asymptomatic [2]
An unrelated couple in the Vietnamese Kinh group was admitted to the Human Genetics Department, National Children’s Hospital, for genetic counseling for thalassemia
Summary
C.79G>A Associated with HBB: C.-78A>G Mutation of HBB Gene Leading to Β-Thalassemia Intermedia in A Vietnamese Patient: A. Nguyen Van Hưng1#, Ngo Diem Ngoc2#, Nguyen Thi Phuong Mai, Ngo Thị Tuyet Nhung, Lý Thi Thanh Ha1,2* and Tien Anh Ngo3*. Abstract β-thalassemia is an inherited blood disorder that is the most common single-gene disorder worldwide and in Vietnam. This study reports an intermedia β thalassemia patient in a family from Northern Vietnam. The mother has compound heterozygous thalassemia presenting mutation of hemoglobin HBB: c.79G>A associated with HBB: c.-78A>G. The result indicates that the determination of molecular characterization of subjects presenting normal HbA2 level associated with abnormal red cell indices is needed for accurate diagnosis and improved genetic counseling
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