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The different alpha thalassemia genotypes in American and Jamaican black populations have been defined by hematologic and globin-chain synthesis studies, alpha/beta globin messenger RNA ratios and restriction endonuclease mapping of DNA. The results indicate that the common form of alpha thalassemia in these populations is the deletion type of alpha-thalassemia 2 (- alpha/alpha alpha). The homozygous state (- alpha/alpha- alpha) is expressed at birth by the presence of more than 2--3% hemoglobin Bart's; in adult life it has the same phenotype as the heterozygous state for the deletion form of alpha-thalassemia 1 (--/alpha alpha). The heterozygous state is not always associated with detectable amounts of hemoglobin Bart's at birth or with recognizable hematologic changes in adults.

Type

Journal article

Journal

Johns Hopkins Med J

Publication Date

1980

Volume

146

Pages

300 - 310

Keywords

Comparative Study Female Genotype *Hemoglobins, Abnormal/genetics Human Infant Infant, Newborn Jamaica Male *Negroid Race North America Pedigree Phenotype Thalassemia/epidemiology/*genetics