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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.

Type

Journal article

Journal

N Engl J Med

Publication Date

1980

Volume

303

Pages

1383 - 1388

Keywords

Child DNA Restriction Enzymes Hemoglobin H/analysis Homozygote Humans Pedigree Phenotype RNA, Messenger/genetics Saudi Arabia Thalassemia/blood/epidemiology/*genetics