Hb Grady and alpha thalassemia: a contribution to the problem of the number of Hb alpha structural loci in man.
Hematological evaluation and data from chain synthesis analyses in six members of the family with two members having Hb Grady (i.e., and alpha chain variant with elongated chains due to an insertion of three amino acid residues [1]) indicate the presence of multiple nonallelic Hb alpha structural loci in the single Hb Grady heterozygote. The data support the earlier stated hypothesis that the Hb alpha Grady locus resulted from a crossing over between chromosomes of two tandemly repeated Hb alpha loci. The presence of an alpha thalassemia condition in one of the two Hb Grady heterozygotes increases the relative production of the alpha Grady chain by a factor of two.
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005796:Genes; D006455:Hemoglobins, Abnormal / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood*
D006455:Hemoglobins, Abnormal