Sickle Cell Disease in a Brazilian Population from Sao Paulo: A Study of the β^s Haplotypes

Abstract

In this study we have determined the frequency of β^s haplotypes in a Brazilian sickle cell disease population from Sao Paulo, Brazil, by analyzing sequence variations in the immediate 5’ flanking and second intervening sequence (IVSII) regions of the γ globin genes. This association between sequence differences and β^s haplotype backgrounds was determined by screening genomic DNA samples using dot blot analysis of polymerase chain reaction products. We studied 148 β^s chromosomes, and found that haplotype 20 (CAR or Bantu) significantly predominated in this population. This is in agreement with the findings of the historical Portuguese Atlantic slave trade from Africa to South America.

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

“…This suggests an uneven β S -globin gene haplotype distribution in Brazil Goncalves et al, 1994;Figueiredo et al, 1996;Pante-De-Souza et al, 1999). In the present study, we report for the first time the presence of the Cam and Arabia-India haplotypes in Bahia, confirming the previously described African origin diversity of this population (Goncalves et al, 2003;Adorno et al, 2004).…”

Myocardial bridge in a patient with sickle cell anemia

“…In the city of São Paulo, 0.1% of the newborns show the homozygous state of sickle cell disease. In the state of Bahia, SCA is the most common genetic condition 3 . This condition has different prognoses, depending on the genetic presentation.…”

“…Hematological tests revealed the following findings: red cells, 3.79 million/mm 3 ; hemoglobin, 12.2g%; hematocrit, 39%; reticulocyte count, 3.1%; she had a normal white blood cell count and a positive sickling test. Hemoglobin electrophoresis showed 55.4% of HbS and 44.1% of HbC.…”

Hemoglobin sickle cell disease in Brazil

“…We also accessed the bs haplotype of these patients and observed a high frequency of Benin haplotype (51.7%) in a region where a large proportion of the sickle cell anemia patients (61.7%) come from Bantu ethnic groups. 6,7 This disparity in data obtained on SC patients' haplotype could be related to internal migratory flow, since many individuals from Bahia (were Benin haplotype prevails) come from the southeastern region. 8 However, another possible interpretation could be a modulatory action of Benin haplotype allowing these patients to have a better survival than patients with other bs haplotypes.…”