A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A 2 from a cohort of 47336 individuals
- Resource Type
- Authors
- Jiwu Lou; Yuhua Ye; Manna Sun; Ying Zhao; Youqing Fu; Yanhui Liu
- Source
- International Journal of Laboratory Hematology. 45:90-95
- Subject
- Biochemistry (medical)
Clinical Biochemistry
Hematology
General Medicine
- Language
- ISSN
- 1751-553X
1751-5521
Though an increase in Hb AWe reviewed the haematological indices of 47336 individuals to analyse the phenotype-genotype correlation and identified 1439 individuals (3.04%) positive in the elevation of Hb AOf these 1439 individuals with elevated Hb AThis study has provided a mutation spectrum of SUPT5H in a cohort screening leading to the elevation of Hb A