BETA-0-THALASSEMIA FROM ALGERIA - GENETIC AND MOLECULAR CHARACTERIZATION

Abstract

.beta.-Thalassemia is a major public health problem in Algeria. During a survey, a family including 2 cases of .beta.0-thalassemia was studied. The family study indicated that 2 of the affected siblings had homozygous .beta.-thalassemia; there were also both normal and heterozygous siblings, and both parents had .beta.-thalassemia trait. In the 2 cases of .beta.0-thalassemia there was no Hb A in the peripheral blood, and no .beta.-globin chain synthesis in whole cell incubations. Hybridization of purified complementary DNA specific for .alpha.- and .beta.-globin messenger RNA demonstrated less than 1% mRNA.beta. relative to mRNA.alpha. in circulating reticulocytes, and for 1 case in total RNA from bone marrow. There is no apparent .beta.-globin gene deletion as determined by hybridization in globin cDNA.beta. sequence excess. Therefore the Algerian cases studied are similar in molecular pathology to some Southern Italian and Asian cases described previously, and differ from other Italian and Chinese .beta.0-thalassemias, in which hybridizable mRNA.beta. was demonstrated, and from .delta..beta.0-thalassemia, which is caused by a gene deletion.