Sickle cell anemia and β‐gene cluster haplotypes in Cuba

Abstract

We have studied 91 patients with SS genotype, 44 children and 47 adults. Excluding the Cameroon and atypical haplotypes, the distribution in the children's sample exhibited 43% Benin, 38% Bantu, and 3% Senegal. In adults, the sample exhibited 46% Benin, 30% Bantu, and 9% Senegal (chi 2: 13.511, 2 df, P = 0.001). When the whole sample of 198 chromosomes (SS, SC, and S/beta thal) is considered, we find that the beta s chromosome is linked 51% to the Benin haplotype, 41% with the Bantu, and 8% with the Senegal. After adjusting for the different frequencies of beta s in Africa, these numbers would predict the port of origin to be 16% from Atlantic West Africa, 37.3% from Central West Africa, and 46% from Bantu-speaking Africa. This is in direct contradiction with the historical record that establishes a higher percentage from Bantu-speaking Africa (55%) and a much lower percentage from Senegal (3.4%). The overall conclusions from these findings is that there is a loss of Bantu haplotypes in sickle cell syndromes in Cuba, particularly among adults, and that there is an excess of Senegal haplotype, also among adults. These differences might reflect the differential survival and severity of the sickle cell disease linked to these haplotypes.

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

“…34 To our knowledge, the estimated frequency of ␤-globin haplotypes among chromosomes from Hispanics is the only available description for Hispanics born in the United States. Compared with available estimates of Central/South American and Caribbean ␤-globin haplotype diversity, the distribution of haplotypes in this Hispanic population is similar to that described for Venezuela 35 and Cuba, 36 but different from that described for Jamaica, 6,7,34 Guadeloupe, 37 Colombia, 38 and Brazil. 39 As expected, the black population reported here had more distinct haplotypes and haplotype combinations than the Hispanic population.…”

“…in a Cuban population, 36 suggesting newborns with haplotypes associated with severe complications may not live to adulthood. Although the data from that study have not been replicated, 35,37,38 investigators should note that the prevalence of genotypes determined from blood spots could be limited to a newborn population, depending on the disorder being studied.…”

Beta-globin gene cluster haplotypes in Venezuelan sickle cell patients from the State of Aragua

“…In order to provide the required information for further analysis of the heterogeneity of the hematological parameters and clinical manifestations of SCD in Venezuela, the DNA β-globin gene cluster haplotypes were analyzed in 48 Venezuelan sickle cell patients from the State of Aragua. The results were compared with those found in other studies with Venezuelan patients (Arends et al, 2000), Guadeloupe Island and Iberoamerican populations of Cuba (Muniz et al, 1995), Colombia (Cuellar-Ambrosi et al, 2000) and Brazil Figueiredo et al, 1994;Gonçalves et al, 1994;Pante de Sousa et al, 1998, 1999.…”

ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

“…In contrast, haplotype studies on the Cuban and Puerto Rican populations have found a predominance of genes from the Bantu haplotype, suggesting a different African origin of these populations (5,(19)(20)(21).…”