A new genetic basis for hemoglobin-H disease.
We studied 11 families with alpha-thalassemia from the Qatif population of eastern Saudi Arabia to determine the genetic and molecular basis of hemoglobin-H disease, which is being encountered in this area with increasing frequency. The results show that there are two common alpha-thalassemia haplotypes, a deletion (-alpha/) determinant and a nondeletion (alpha alpha T/) determinant, which interact to produce a series of overlapping phenotypes. The most severe, hemoglobin-H disease, results from the homozygous state for the nondeletion determinant--a pattern of inheritance not previously recognized for this condition. Its molecular and genetic properties are thus different from those that produce the condition in Oriental or Mediterranean populations.
D002648:Child; D004262:DNA Restriction Enzymes; D006447:Hemoglobin H / Q000032:analysis; D006720:Homozygote; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D012529:Saudi Arabia; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D012333:RNA, Messenger; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes