f 30 - Thalassemia From Algeria : Genetic and Molecular Characterization

3-Thalassemia is a major public health problem in Algeria. During a survey, a family including two cases of 30-thalassemia was studied. The family study indicated that two of the affected siblings had homozygous /3-thalassemia; there were also both normal and heterozygous siblings, and both parents had /3-thalassemia trait. In the two cases of /30-thalassemia there was no hemoglobin A in the peripheral blood, and no /3-globin chain synthesis in whole cell incubations. Hybridization of purified complementary DNA specific for aand 3-globin messenger RNAs demonstrated less than 1% mRNA relative to mRNAa in circulating reticulocytes, and for one case in total RNA from bone marrow. There is no apparent /3globin gene deletion as determined by hybridization in globin cDNA 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 f30-thalassemias, in which hybridizable mRNA has been demonstrated, and from t5/30-thalassemia, which is caused by a gene deletion.