TY - JOUR
T1 - Molecular analysis of the β-globin gene cluster haplotypes in a Sudanese population with sickle cell anaemia
AU - Elderdery, A.
AU - Mills, Jeremy
AU - Mohamed, B.
AU - Cooper, Alan
AU - Mohammed, A.
AU - Eltieb, N.
AU - Old, J.
PY - 2011
Y1 - 2011
N2 - Introduction: Sudan has a multiethnic population with a high frequency of Hb S, but little is known about the βS haplotypes in this population.
Methods: Blood samples from Sudanese Hb SS individuals were taken at two locations. Family history, age, ethnicity and clinical symptoms were recorded for each subject. Hb S was investigated using cellulose acetate electrophoresis (CAE) and cation exchange–high performance liquid chromatography. Dried blood samples from 93 individuals were used for βS haplotype identification based on restriction fragment length polymorphism analysis for seven restriction sites.
Results: Haplotypes could be assigned unequivocally to 143 chromosomes. Four of the five typical βS-globin haplotypes were identified. The most frequent was the Cameroon (35.0%), followed by the Benin (29.4%), the Senegal (18.2%) and the Bantu (2.8%). The Indian-Arab haplotype was not observed. Three atypical haplotypes were identified in 17 patients, occurring at a combined frequency of 14.6%. One of these, found at the high frequency of 11.8%, possibly represented a new Sudan haplotype.
Conclusion: βS Haplotyes were demonstrated successfully from dried blood samples. A new haplotype is apparent in Sudan, in addition to the four African haplotypes.
AB - Introduction: Sudan has a multiethnic population with a high frequency of Hb S, but little is known about the βS haplotypes in this population.
Methods: Blood samples from Sudanese Hb SS individuals were taken at two locations. Family history, age, ethnicity and clinical symptoms were recorded for each subject. Hb S was investigated using cellulose acetate electrophoresis (CAE) and cation exchange–high performance liquid chromatography. Dried blood samples from 93 individuals were used for βS haplotype identification based on restriction fragment length polymorphism analysis for seven restriction sites.
Results: Haplotypes could be assigned unequivocally to 143 chromosomes. Four of the five typical βS-globin haplotypes were identified. The most frequent was the Cameroon (35.0%), followed by the Benin (29.4%), the Senegal (18.2%) and the Bantu (2.8%). The Indian-Arab haplotype was not observed. Three atypical haplotypes were identified in 17 patients, occurring at a combined frequency of 14.6%. One of these, found at the high frequency of 11.8%, possibly represented a new Sudan haplotype.
Conclusion: βS Haplotyes were demonstrated successfully from dried blood samples. A new haplotype is apparent in Sudan, in addition to the four African haplotypes.
U2 - 10.1111/j.1751-553X.2011.01388.x
DO - 10.1111/j.1751-553X.2011.01388.x
M3 - Article
SN - 1751-553X
VL - 34
SP - 262
EP - 266
JO - International Journal of Laboratory Hematology
JF - International Journal of Laboratory Hematology
IS - 3
ER -