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Molecular characterization of sickle cell anemia in the Northern Brazilian state of Pará
Author(s) -
De Lemos Cardoso Greice,
Guerreiro João Farias
Publication year - 2010
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.21047
Subject(s) - thalassemia , haplotype , sickle cell anemia , microbiology and biotechnology , biology , genetics , allele , multiplex polymerase chain reaction , restriction site , hemoglobinopathy , polymerase chain reaction , gene , restriction enzyme , hemolytic anemia , cell , immunology
Abstract To assess α+‐thalassemia deletion alleles, β‐thalassemia mutations and haplotypes linked to the HBB*S cluster in a sample of 130 unrelated sickle cell anemia (SCA) patients (55% female) from Belém, Pará State, for their possible effects on the patients' survival. ‐α 3.7 , ‐α 42 , ‐α 20.5 , and – MED α+‐thalassemia deletion alleles were investigated using multiplex gap‐PCR method. Characterization of β‐thalassemia mutations was made by direct genomic sequencing of the β‐globin gene amplified through polymerase chain reaction (PCR). Haplotypes were determined by analysis of six polymorphic restriction sites [(1) Xmn I‐5′γG, (2) Hind III‐γG, (3) Hind III‐γA, (4) Hinc II‐ψβ, (5) Hinc II‐3′ψβ, and (6) Hinf I‐5′β] followed by restriction digestion and agarose gel electrophoresis. Twenty‐one patients (16%) presented ‐α3.7 thalassemia. Sixteen of those (76%) were heterozygous (‐α3.7/αα) and 5 (24%) were homozygous (‐α3.7/‐α3.7). ‐α 4.2 , ‐α 20.5 and – MED deletions were not found. Nine cases of sickle cell‐β thalassemia were found and four different β‐thal mutations were identified: β + −88 (C>T), 3.8%; β + codon 24 (T > A), 1.5%; β + IVSI‐110 (G > A), 0.7% and β (IVSI‐1 (G > A), 0.7%. No differences according to age were observed in ‐α 3.7 deletion, β‐thalassemia and HHB*S haplotypes distribution. Our results suggest that although α‐ and β‐thalassemia and βS haplotypes may have modulating effect on clinical expression and hematological parameters of SCA, these genetic variables probably have little influence on the subjects' survival. Am. J. Hum. Biol. 22:573–577, 2010. © 2010 Wiley‐Liss, Inc.