Prenatal diagnosis of Hb H disease due to compound heterozygosity for South‐East Asian deletion and Hb constant spring by polymerase chain reaction
Journal
Prenatal Diagnosis
Journal Volume
13
Journal Issue
2
Pages
143-146
Date Issued
1993
Author(s)
Abstract
A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South?east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South?east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated. Copyright ? 1993 John Wiley & Sons, Ltd.
Subjects
Constant Spring Hb H disease; Polymerase chain reaction; Prenatal diagnosis; South?east Asian deletion Hb
SDGs
Other Subjects
hemoglobin h; article; case report; female; fetus; gene deletion; hemoglobinopathy; heterozygosity; human; polymerase chain reaction; prenatal diagnosis; Abortion, Therapeutic; Adult; alpha-Thalassemia; Base Sequence; Blotting, Southern; Case Report; Chorionic Villi Sampling; Chromosome Deletion; DNA; Female; Fetal Diseases; Heterozygote; Human; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, First; Support, Non-U.S. Gov't
Type
journal article