Molecular analysis of the β‐globin gene cluster haplotypes in a Sudanese population with sickle cell anaemia

Abstract

β(S) Haplotyes were demonstrated successfully from dried blood samples. A new haplotype is apparent in Sudan, in addition to the four African haplotypes.

First recorded case of haemoglobin SC in sudan

“…HbF at 4.4 to 4.6% in the HbSC cases was higher than levels reported in Sudanese patients with HbSS [24]. Of the HbAS cases, HbF was very low in the sister and her brother, but it was 0.2% in the mother.…”

Beta-Globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa?

“…However, on the African continent and in two independent studies, atypical haplotypes *Hb electrophoresis was also obtained from 344 patients (55.5%) using alkali denaturation test (ADT), with a mean of 11.4 -9.4 for HbF and 4.1 -2.1 for HbA2 levels. appear in relatively high frequency in Sudan, in concert with all the other types of African haplotypes, particularly a relatively high proportion of Senegal and Cameroon haplotypes (Elderdery et al, 2012;Mohammed et al, 2006). The relatively high frequency of the Cameroon haplotype in Sudan versus in Cameroon (Elderdery et al, 2012) is not completely anomalous, but rather the reflection that the geographical nomenclature of haplotypes (named according to the first region of observation) does not necessarily reflect their place of origin.…”

“…appear in relatively high frequency in Sudan, in concert with all the other types of African haplotypes, particularly a relatively high proportion of Senegal and Cameroon haplotypes (Elderdery et al, 2012;Mohammed et al, 2006). The relatively high frequency of the Cameroon haplotype in Sudan versus in Cameroon (Elderdery et al, 2012) is not completely anomalous, but rather the reflection that the geographical nomenclature of haplotypes (named according to the first region of observation) does not necessarily reflect their place of origin. The refinement of the molecular structure (i.e., haplotype) in HBB and migration patterns is still urgently needed, specifically in Africa.…”

“…The Cameroon haplotype was then said to be restricted to a single ethnic group, the Eton of Central Cameroon (Lapoumeroulie et al, 1992), which is contrary to current data from Sudan (Elderdery et al, 2012;Mohammed et al, 2006). More recently, a specific atypical haplotype in Tunisia was considered by authors as specific to the Tunisian chromosome b(S) (Imen et al, 2011).…”

“…When data within Africa was compared, the literature review revealed four major features in Sudanese SCD patients: 1) all four classical SCD haplotypes were reported in significant proportions; 2) Cameroon haplotype was reported in a much higher proportion in Sudan than in Cameroon; 3) surprisingly, there was a higher proportion of Senegal haplotypes in Sudan when compared to the rest of East Central and parts of West Africa, and lastly 4) there was a relatively high proportion of atypical haplotypes (Elderdery et al, 2012) (Table 4, Fig. 2).…”