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  • Title: A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].
    Author: Burnichon N, Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Mowafy M, Couprie N, Francina A.
    Journal: Hemoglobin; 2006; 30(2):155-64. PubMed ID: 16798639.
    Abstract:
    A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC-->GTC); alpha75(EF4)Asp-->Val (alpha2)] corresponding to an A-->T transversion on the second exon of the alpha2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.
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