Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patient |
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Authors: | Jacquette Aurelia Le Roux Geneviève Lacombe Chantal Goossens Michel Pissard Serge |
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Affiliation: | Laboratoire de Biochimie et de Génétique, H?pital Henri Mondor, Créteil, France. |
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Abstract: | More than 200 mutations that are associated with beta-thalassemia (thal) have been found. In most cases, studies to detect a mutation in a patient is made easier because of the existence of geographical sets of mutations that allow the use of a dedicated mutation detection kit. We describe here a patient who originated from Tunisia, in whom we found two as yet unreported mutations, showing that even in a well-studied population a full gene study might be needed to characterize mutation(s). |
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