Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
| Autor: | Gisele Audrei Pedroso, Maria de Fátima Sonati, Julio da Luz, Ana María Soler, Lorena da Silveira, Enrique Savio, Pablo López, Bruna Facanali Piellusch |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0106 biological sciences
0301 basic medicine Anemia hypochromia Alpha-thalassemia Biology QH426-470 medicine.disease_cause 01 natural sciences 03 medical and health sciences hemic and lymphatic diseases alpha-MRE medicine Genetics Molecular Biology Mutation Microcytosis Haplotype Genetic disorder medicine.disease Restriction enzyme microcytosis 030104 developmental biology Hypochromia Human and Medical Genetics Uruguay 010606 plant biology & botany |
| Zdroj: | Genetics and Molecular Biology Genetics and Molecular Biology, Volume: 44, Issue: 2, Article number: e20200399, Published: 26 MAR 2021 Genetics and Molecular Biology, Vol 44, Iss 2 (2021) Genetics and Molecular Biology v.44 n.2 2021 Sociedade Brasileira de Genética (SBG) instacron:SBG |
| ISSN: | 1678-4685 1415-4757 |
| Popis: | Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C>T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay. |
| Databáze: | OpenAIRE |
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