Alpha-thalassemia in blacks is due to gene deletion.
We used molecular hybridization to test if alpha-thalassemia is due to gene deletion in the black. In 10 families with clinically well-defined alpha-thalassemia-1 (alpha-thal-1), hydribization of alpha-globin cDNA was reduced to the same level as that found in Asians with alpha-thal-1, where two of the four normally present alpha-globin genes are deleted. A black child with hemoglobin H (Hb H) disease also has three globin genes deleted, as do Asian patients with Hb H disease. We conclude that alpha-thalassemia in the black is most commonly due to gene deletion.
D044383:Black People; D002872:Chromosome Deletion; D004270:DNA, Circular; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000235:genetics*
D004270:DNA, Circular; D005914:Globins; D006447:Hemoglobin H