African gene flow to north Brazil as revealed by HBB*S gene haplotype analysis

Abstract

Haplotypes linked to the HBB*S gene were analyzed in a sample of 260 chromosomes of Brazilian sickle cell anemia patients from the population of Belém, state of Pará, to evaluate if the present-day haplotype frequencies correlate as well as expected with historical information on the geographic origin of African slaves sent directly to Northern Brazil. The HBB*S gene haplotype distribution (66% Bantu, 21.8% Benin, 10.9% Senegal, and 1.3% Cameroon) is in agreement with those observed for other Brazilian populations regarding the highest proportion of the Bantu type, followed by the Benin type, but it differs significantly concerning the Senegal type as this haplotype is rare or absent in samples from other Brazilian regions already studied. In addition, our results are in accordance with historical records that establish that about 90% of the slaves sent to Northern Brazil were from Angola, Congo, and Mozambique, where the Bantu haplotype predominates, in contrast to 10% of slaves from Senegambia, Guine-Bissau, and Cape Verde, where the Senegal haplotype is the most common. On the other hand, the observed frequency of the Benin haplotype in Belém was much higher than that expected by historical data. This fact corroborates the suggestion that the high prevalence of the Benin type in Belém is due to domestic slave trade and later internal migrations, mainly from the Northeast, since there are no historical records of direct slave trade from Central West Africa to North Brazil.

Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease

“…Haplotype blocks of the b-globin locus and pulmonary hypertension in sickle cell anemia Three common b S haplotypes predominate in this population in agreement with other studies [22][23][24], and these b globin locus haplotypes do not appear to have a strong effect on the prevalence of pulmonary hypertension (Table III, Fig. S1).…”

<i>ß</i>-Globin Gene Cluster Haplotypes and Clinical Severity in Sickle Cell Anemia Patients in Southern Brazil

“…Our data confirm the prevalence of the Bantu haplotype, followed by Benin, as previously observed by Wagner et al [29] in the southern region of Brazil, and described in other Brazilian regions [30]. However, our data differ from those reported for North American and Jamaican populations, where Benin haplotypes are more common, reflecting a preference for the traffic of Midwestern Africans to those regions during the British Atlantic slave trade [31].…”

β-Globin Gene Cluster Haplotypes in a Cohort of 221 Children with Sickle Cell Anemia or Sβ⁰-Thalassemia and Their Association with Clinical and Hematological Features

“…Brazil has significant regional differences in β S -haplotype distribution that may be explained by the origin and quantity of African slaves arriving in each region during the colonial period, by the internal flux of slaves, and by the diversity in miscegenation levels [12,13,14,15,16,17,18,19,20]. During the transatlantic slave trade period (1514–1866), an estimated 4.9 million Africans arrived in Brazil [34].…”

“…There are 5 classic haplotypes linked to the β S mutation; they are named according to their geographic origin and the ethnic groups in which they are predominantly found as follows: Bantu or Central African Republic (CAR), Benin (Ben), Senegal (Sen), Arab-Indian, and Cameroon (Cam) [10,11]. In Brazil, most β S -haplotypes are of the types CAR and Ben, with significant regional differences as a result of the flux of African slaves during the colonial period [12,13,14,15,16,17,18,19,20]. β-Thalassemia alleles are also associated with specific patterns of polymorphisms in the β-globin gene cluster.…”