[Molecular genetic studies in alpha-thalassemia].
A group of 5,000 patients, suspected of haemolytic anaemia, were investigated with molecular genetic methods for deletion types of alpha-thalassemia. In 776 (15.6%) patients a deletion of one or more alpha-globin genes was found. The same group of patients was also investigated for abnormal haemoglobins and beta-thalassaemia. In about 30% of the patients either an alpha-thalassaemia, an abnormal haemoglobin, a beta-thalassaemia, or a combination was diagnosed. In a group of patients with a haemoglobinopathy, the frequency of alpha-thalassaemia was much higher (i.e. 33%) than in individuals without haemoglobinopathy. Preselection of the patients based on the presence of microcytic erythrocytes and/or a decreased ADW0.5 of the erythrocytes gave a high incidence of false-negative and false-positive results. Therefore, haemoglobin examination should not be restricted to protein chemistry, but should include molecular genetic investigations for deletion types of alpha-thalassaemia.
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Centraal Laboratorium van de Bloedtransfusiedienst van het Nederlandse Rode Kruis, afd. Bloedcelchemie, Amsterdam.
Cuypers
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de Klein
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Winkel
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Vuil
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Roos
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D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D004247:DNA / Q000235:genetics*; D004909:Erythrocyte Indices; D005838:Genotype; D005914:Globins / Q000235:genetics; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA
Moleculair-genetisch onderzoek bij alpha-thalassemie in Nederland.