Five adults with mild sickle cell anemia share a beta S chromosome with the same haplotype.
Five adult SS patients from Qatar, Turkey, and South Africa with mild disease, had greatly elevated Hb F and specific patterns of polymorphic sites on their beta S chromosomes. One subject had an alpha-thalassemia (-alpha/-alpha). The haplotypes were the common type #19, associated with severe disease, and type #31, not seen thus far in an SS patient (numbering system of Antonarakis et al). The data suggest that modifications in the DNA of the beta S #31 chromosome promotes the synthesis of gamma chains.
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human; D004247:DNA / Q000032:analysis; D005260:Female; D006238:Haploidy; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D006451:Hemoglobin, Sickle; D004247:DNA