A New Genetic Basis for Hemoglobin-H Disease

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Abstract
We studied 11 families with α-thalassemia from the Qatif oasis 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 α-thalassemia haplotypes, a deletion (–α/) determinant and a nondeletion (ααT/) 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. (N Engl J Med. 1980; 303:1383–8.)