Article
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.
Molecular medicine reports - 1 Nov 2017
Wu Liusong, Peng Zhiyu, Lu Sen, Tan Mei, Rong Ying, Tian Runmei, Yang Yuhang, Chen Yan, Chen Jindong
Abstract excerpt
In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l. Sanger sequencing combined with reverse transcription‑quantitative polymerase chain reaction...
Topics
- Bone Marrow Transplantation
- Child, Preschool
- Female
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- beta-Thalassemia