Article
A phased SNP-based classification of sickle cell anemia HBB haplotypes.
BMC genomics - 11 Aug 2017
Shaikho Elmutaz M, Farrell John J, Alsultan Abdulrahman, Qutub Hatem, Al-Ali Amein K, Figueiredo Maria Stella, Chui David H K, Farrer Lindsay A, Murphy George J, Mostoslavsky Gustavo, Sebastiani Paola, Steinberg Martin H
Abstract excerpt
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...
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