The leftward deletion alpha-thal-2 haplotype in a black subject with hemoglobin SS.
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.
D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics*; D044383:Black People; D002872:Chromosome Deletion; D004907:Erythrocyte Deformability; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle