The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.

摘要: The spectrum of β-thalassemia (β-thal) mutations was investigated for the first time in a cohort 33 unrelated patients from Brazilian Amazon attending Center Hemotherapy and Hematology Para Foundation (HEMOPA), Belem, state capital Para, Northern Brazil. Identification β-thal made by direct genomic sequencing β-globin gene. Mutations were identified all patients, corresponding to 10 different point total 37 alleles studied. HBB: c.92 + 5G > A [IVS-I-5 (G > A)], most common mutation, followed c.118C > T [codon 39 (C > T)], c.-138C > T [-88 (C>T)], c.92 + 1G > A [IVS-I-1 (G > A)] c.92 + 6T > C [IVS-I-6 (T > C)] mutations. These five (four Mediterranean origin one African origin) accounted 86.5% alleles. profile found northern Brazil is those described other regions country. In southeast south, nonsense mutation prevalent, c.93-21G > A [IVS-I-110 whereas northeast, has been as c.92 + 1G > A. This heterogeneous geographical distribution certainly related ancestry populations because they have similar genetic backgrounds (European, Amerindian), although with slightly admixture proportions. Furthermore, European contribution south largely up immigrants nationalities, such Italian Spanish, addition Portuguese.