Abstract
The hemoglobin of a 24-year-old man of Italian descent who has the phenotypic characteristics of thalassemia intermedia contains about 12% hemoglobin F, 73% hemoglobin A, and 15% hemoglobin A2. Chemical analysis definitely identifies the last as hemoglobin A2. So elevated a percentage of hemoglobin A2 has not been reported before. In addition, the amount of hemoglobin A is unusually large for an individual with presumed homozygosity for β-thalassemia. Although the evidence is indirect, it is suggested that he is heterozygous for two conditions: β-thalassemia and a “Miyada” type of gene that produces a hemoglobin indistinguishable from hemoglobin A2.
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The work was supported in part by grants HL-02558 and HL-05168 and Training Grant HD-00048 from the National Institutes of Health, U.S. Public Health Service, as well as funds from the Southern California Chapter of the Cooley's Anemia Blood and Research Foundation.
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Schroeder, W.A., Huisman, T.H.J., Hyman, C. et al. An individual with “Miyada”-like hemoglobin indistinguishable from hemoglobin A2 . Biochem Genet 10, 135–147 (1973). https://doi.org/10.1007/BF00485761
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DOI: https://doi.org/10.1007/BF00485761