학술논문
Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion
Document Type
Article
Author
Source
Taiwanese Journal of Obstetrics and Gynecology; June 2018, Vol. 57 Issue: 3 p435-441, 7p
Subject
Language
ISSN
10284559
Abstract
The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. 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.