Molecular characterization of sickle cell anemia in the Northern Brazilian state of Pará.

摘要: To assess alpha+-thalassemia deletion alleles, beta-thalassemia mutations and haplotypes linked to the HBB*S cluster in a sample of 130 unrelated sickle cell anemia (SCA) patients (55% female) from Belem, Para State, for their possible effects on patients' survival. -alpha(3.7), -alpha(42), -alpha(20.5), -(MED) alleles were investigated using multiplex gap-PCR method. Characterization was made by direct genomic sequencing beta-globin gene amplified through polymerase chain reaction (PCR). Haplotypes determined analysis six polymorphic restriction sites [(1) XmnI-5'gammaG, (2) HindIII-gammaG, (3) HindIII-gammaA, (4) HincII-psibeta, (5) HincII-3'psibeta, (6) HinfI-5'beta] followed digestion agarose gel electrophoresis. Twenty-one (16%) presented -alpha3.7 thalassemia. Sixteen those (76%) heterozygous (-alpha3.7/alphaalpha) 5 (24%) homozygous (-alpha3.7/-alpha3.7). -Alpha(4.2), -alpha(20.5) deletions not found. Nine cases cell-beta thalassemia found four different beta-thal identified: beta(+) -88 (C>T), 3.8%; codon 24 (T > A), 1.5%; IVSI-110 (G 0.7% beta (IVSI-1 0.7%. No differences according age observed -alpha(3.7) deletion, HHB*S distribution. Our results suggest that although alpha- betaS may have modulating effect clinical expression hematological parameters SCA, these genetic variables probably little influence subjects'