Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion

In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family.

Source: Taiwanese Journal of Obstetrics and Gynecology - June 1, 2018 Category: OBGYN Authors: Ha Ly Thi Thanh, Huong Le Thi Thanh, Long Hoang Luong, Thinh Huy Tran, Su-Ching Liu, Hai Nam Truong, Thanh Van Ta, The - Hung Bui, Van Khanh Tran Tags: Case Report Source Type: research