A phased SNP-based classification of sickle cell anemia HBB haplotypes.

ABSTRACT:

Background

Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone.

Methods

We used genome-wide SNP data imputed to the 1000 Genomes reference panel to obtain phased data distinguishing parental alleles.

Results

We successfully haplotyped 813 sickle cell anemia patients previously classified by RFLPs with a concordance >98

SUBMITTER: Shaikho EM 

PROVIDER: S-EPMC5553663 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature