AB111. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia
Part 4: Oral/poster

AB111. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia

Thi Thanh Ha Ly1, Ngoc Diem Ngo1, Nhung Tuyet Ngo1, Mai Thi Phuong Nguyen1, Huong Thi Mai Nguyen1, Truc Ba Duong2

1Human Genetic Department, 2Hematology Department, National Hospital of Pediatrics, Hanoi, Vietnam

Abstract: β-thalassemia is the most common single gene disorder worldwide and in Vietnam. In the present study we report in members of a family from North Vietnam, the mother compound heterozygous thalassemia intermedia presenting mutation of hemoglobin HBB: c. -78A>G/nt-28(A>G) with Cd 26(A-G) HbE. The father, heterozygous for Cd71/72(+A), β+ beta thalassemia. To our knowledge, this is the first report of -28(A>G) in trans with beta thalassemia variant Cd 26(A-G) HbE leading to beta thalassemia intermedia. Our data highlight the necessity of deep molecular characterization of subjects presenting normal HbA2 level associated with abnormal red cell indices. It’s necessary for accurate diagnosis and improved genetic counseling.

Keywords: Beta thalassemia intermediate; Cd 26(A-G) HbE; c. -78A>G/nt-28(A>G)

Cite this abstract as: Ly TT, Ngo ND, Ngo NT, Nguyen MT, Nguyen HT, Duong TB. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia. Ann Transl Med 2015;3(S2):AB111. doi: 10.3978/j.issn.2305-5839.2015.AB111

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