Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia
| Autor: | David J. Weatherall, E. A. Letsky, J. B. Clegg, J. S. Wainscoat, Emmanuel Kanavakis, E. R. Huehns, Doug Higgs, G W Marsh, William G. Wood |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Genotype β globin gene Alpha (ethology) β thalassaemia hemic and lymphatic diseases Internal medicine Humans Medicine Child Thalassaemia major business.industry Homozygote Significant difference Thalassaemia intermedia Clinical course DNA Restriction Enzymes Hematology Middle Aged Globins Beta-thalassaemia Endocrinology Child Preschool Cyprus Transfusion dependence Thalassemia Female Beta globin gene Chromosome Deletion business |
| Zdroj: | British Journal of Haematology. 53:411-416 |
| ISSN: | 0007-1048 |
| Popis: | Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia). There was a significant difference in the incidence of alpha thalassaemia between the two groups: 14/27 of the patients with thalassaemia intermedia also had deletion forms of alpha thalassaemia, while only 4/30 of the patients with thalassaemia major were similarly affected. Thus in Cypriot patients who are homozygous for beta thalassaemia the co-inheritance of alpha thalassaemia is an important factor in determining the clinical course. |
| Databáze: | OpenAIRE |
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