Genetic and molecular diversity in nondeletion Hb H disease.
Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005796:Genes; D005809:Genes, Regulator; D008040:Genetic Linkage; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008970:Molecular Weight; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes