Article
An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene.
Hemoglobin - 1 Jan 2008
Moradkhani Kamran, Mazurier Elodie, Giordano Piero C, Wajcman Henri, Préhu Claude
Abstract excerpt
In a family of Spanish origin, five individuals presented a heterozygous alpha(0)-thalassemia (alpha-thal)-like phenotype. All had a -alpha(3.7) deletion with the recombinant alpha gene carrying the Hb Suan-Dok [alpha109(G16)LeuArg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an alpha(0)-thal-like allele that has to be taken into account for genetic counseling and prenatal...
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