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The leftward deletion alpha-thal-2 haplotype in a black subject with hemoglobin SS.

作者信息

Embury S H, Gholson M A, Gillette P, Rieder R F

出版信息

Blood. 1985 Mar;65(3):769-71.

PMID:3971048
Abstract

We have identified a black individual with homozygous sickle cell anemia who is the silent carrier of alpha-thalassemia (genotype - alpha/alpha alpha) due to heterozygosity for the leftward deletion alpha-thal-2 haplotype. This deletion has not been described previously in a black subject and is the only leftward deletion that we have found among 255 alpha-thal-2 chromosomes from sickle cell subjects. Its effects on the clinical, hematologic, biosynthetic, and cellular pathology of sickle cell anemia resemble those reported for the common alpha-thalassemia genotypes of the black population.

摘要

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