Sickle cell disorder, β-globin gene cluster haplotypes and α-thalassemia in neonates and adults from Guadeloupe

Abstract

We have studied haplotype of β(s) chromosome and α-globin gene status in 534 patients (255 adults and 279 children of whom 159 neonates) from Guadeloupe with various sickle cell-related conditions, namely SS (n = 298), SC (n = 170), S-β-thal (n = 56), and other rare forms (n = 10). Haplotype data on β(s) chromosomes confirm our previous observation that Benin type is the most prevalent (75%) β(s) chromosome in Guadeloupe, in disagreement with the historical records. Comparison of the frequency of distribution of various PS haplotypes between neonates and adults on the one hand and between SS and SC cases on the other shows that the current β(s) haplotype distribution in this island is not distorted by haplotype-related differential survival. We also show that the frequency of α-thalassemia (-3.7 kb) in Guadeloupe is one of the highest recorded in this region involved in Atlantic slave trade and also failed to reveal any age-dependent increase in frequency. We conclude that the African component of Guadeloupe is distinct from that of Brazil and Cuba but is close to that of Jamaica.