Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese G γ+(Aγδβ)0-thalassemia deletion in a Chinese family.

CONCLUSIONS: Thus far, this is the first study to describe the molecular characterization of a homozygous Chinese Gγ+(Aγδβ)0-thalassemia patient who exhibits no clinical symptoms. Our findings suggest that coinheritance of α-thalassemia or HBS1L-MYB locus variants may affect the clinical severity of Chinese Gγ+(Aγδβ)0-thalassemia. We conclude that the molecular examination of genetic determinants known to be associated with clinical outcomes in Chinese Gγ+(Aγδβ)0-thalassemia should be emphasized. PMID: 31765637 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31765637?dopt=Abstract

Source: Clinical Biochemistry - November 21, 2019 Category: Biochemistry Authors: Du L, Qin D, Wang J, Yu L, Yao C, Liu L, Zhang Y, Hu T, Yuan T, Liang J, Yin A Tags: Clin Biochem Source Type: research