Prenatal diagnosis of congenital hemolysis of SEA - HPFH due to loss of the entire HBB gene

Authors: Ly Thi Thanh Ha (a), Le Thi Thanh Huong (a), Luong Hoang Long (c), Tran Huy Thinh (c), Su-Ching Liu (b), Truong Nam Hai (d), Ta Thanh Van (c), Bui The Hung (c) & (e), Tran Van Khanh (c). (*)

Responsible author: Tran Van Khanh.

Journal: Taiwanese Journal of Obstetrics and Gynecology 2018; 57: 435-441

Published on: 2018-03-15

Link: https://www.sciencedirect.com/science/article/pii/S1028455918300858

Goal: Thalassemia is a group of genetic diseases caused by defective hemoglobin chain production. In this report, we describe a rare case of compound heterozygous mutation of SEA-HPFH and β-thalassemia. This finding allows the development of prenatal diagnostic testing for families carrying this mutation in subsequent pregnancies.

Case: The father has SEA-HPFH phenotype with heterozygous SEA-HPFH deletion. The mother has heterozygous mutation IVS2-654. The second child inherited both mutations from his parents and has a complex heterozygous genotype, with β-thalassemia deletion (IVS-II-654) and SEA-HPFH, and has thalassemia intermedia. The prenatal genetic diagnosis of the third fetus showed that the fetus only had heterozygous SEA-HPFH deletion, and the family decided to keep the fetus.

Conclusion: We have, for the first time, described the molecular and clinical characteristics of a complex β-Thalassemia/SEA-HPFH mutation case in northern Vietnam. This report also emphasizes the accuracy and necessity of conducting genetic screening in families with members affected by congenital hemolytic anemia to provide precise genetic counseling and targeted prenatal diagnosis when needed

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