The varied arrangement of the alpha globin genes in alpha thalassemia and Hb H disease in American blacks.
Both Eco RI and Eco RI x Bam HI restriction endonuclease digests of DNA from black Americans with alpha thalassemia yielded an alpha-specific fragment 4 kb shorter than in normals. In Hb H disease, only the shorter fragment was noted, while in "silent carriers" (alpha-thal 2 trait), both the normal and shorter fragments were detected. One subject with single gene deletions on both homologous chromosomes (alpha-thal 1 phe. A non-deletional form of alpha thalassemia also was discovered.
D001741:Black or African American; D000569:Americas; D004247:DNA / Q000032:analysis; D005796:Genes; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006456:Hemoglobinuria / Q000235:genetics*; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; D006447:Hemoglobin H