Hemoglobin H Disease from Algeria: Genetic and Molecular Characterization

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Abstract
A human case of Hb H disease from Algeria was studied at the genetic and molecular level to delineate the pattern of .alpha.-thalassemia in the Mediterranean population. The family study indicated that both parents had the hematological and clinical manifestation of .alpha.-thalassemia trait and that the affected sibling had homozygous .alpha.-thalassemia with 5.6% Hb H, microcytosis and an .alpha.-/non-.alpha.-biosynthetic ratio of 0.64. Hybridization in globin c[complementary]DNA.alpha. excess suggested that the molecular defect responsible for this form of .alpha.-thalassemia is a partial deletion of the haploid stock of .alpha.-globin genes. The Algerian case of Hb H disease studied thus differs from Asian and Negro case by the mode of inheritance of the .alpha.-thalassemia mutation involved.