Genome wide association study of fetal hemoglobin in sickle cell Anemia in Tanzania

Siana Nkya Mtatiro*, Tarjinder Singh, Helen Rooks, Josephine Mgaya, Harvest Mariki, Deogratius Soka, Bruno Mmbando, Evarist Msaki, Iris Kolder, Swee Lay Thein, Stephan Menzel, Sharon E. Cox, Julie Makani, Jeffrey C. Barrett

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    69 Citations (Scopus)


    Background: Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered.

    Methods and Findings: We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSβ0) patients in Tanzania. Genotyping was done with Illumina Omni2.5 array and imputation using 1000 Genomes Phase I release data. Association with HbF was analysed using a linear mixed model to control for complex population structure within our study. We successfully replicated known associations for HbF near BCL11A and the HBS1L-MYB intergenic polymorphisms (HMIP), including multiple independent effects near BCL11A, consistent with previous reports. We observed eight additional associations with P

    Conclusions: This is the largest GWAS study in SCA in Africa. We have confirmed known associations and identified new genetic associations with HbF that require further replication in SCA populations in Africa.

    Original languageEnglish
    Article numbere111464
    JournalPL o S One
    Issue number11
    Publication statusPublished - 5 Nov 2014


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