INTRODUCTION: Sudan has a multiethnic population with a high frequency of Hb S, but little is known about the β(S) 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 β(S) 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 β(S) -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: β(S) Haplotyes were demonstrated successfully from dried blood samples. A new haplotype is apparent in Sudan, in addition to the four African haplotypes.
INTRODUCTION: Sudan has a multiethnic population with a high frequency of Hb S, but little is known about the β(S) 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 β(S) 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 β(S) -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: β(S) Haplotyes were demonstrated successfully from dried blood samples. A new haplotype is apparent in Sudan, in addition to the four African haplotypes.
Authors: J A Moreira; R P G Machado; M R Laurentino; Romelia Pinheiro Gonçalves Lemes; M C Barbosa; T E Santos; I C J Bandeira; A M C Martins Journal: Dis Markers Date: 2016-05-04 Impact factor: 3.434
Authors: Abozer Y Elderdery; Abdullah Alsrhani; Badr Alzahrani; Muhammad Atif; Ahmed I Refaiy; Hussain Shiwani; Amin Abbas; Dawelbiet A Yahia Journal: Evid Based Complement Alternat Med Date: 2022-03-21 Impact factor: 2.629
Authors: Walufu Ivan Egesa; Gloria Nakalema; William M Waibi; Munanura Turyasiima; Emmanuel Amuje; Gloria Kiconco; Simon Odoch; Patrick Kumbowi Kumbakulu; Said Abdirashid; Daniel Asiimwe Journal: Int J Pediatr Date: 2022-10-08