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J Godet, G Verdier, V Nigon, M Belhani, F Richard, P Colonna, J Mitchell, R Williamson and P Tolstoshev
beta-Thalassemia is a major public health problem in Algeria. During a
survey, a family including two cases of betaO-thalassemia was studied. The
family study indicated that two 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 two cases of
betaO-thalassemia there was no hemoglobin 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
RNAs demonstrated less than 1% mRNAbeta relative to mRNAalpha in
circulating reticulocytes, and for one case in total RNA from bone marrow.
There is no apparent beta- globin gene deletion as determined by
hybridization in globin cDNAbeta 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 betaO- thalassemias, in which hybridizable mRNAbeta has been
demonstrated, and from deltabetaO-thalassemia, which is caused by a gene
deletion.
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| Copyright © 1977 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||