Relationship of foetal haemoglobin levels and beta s haplotypes in homozygous sickle cell disease.
The foetal haemoglobin (HbF) levels and the haplotypes of beta s chromosomes in sickle cell anaemia patients in Nigeria were evaluated. The mean HbF level was 5.9 +/- 3.8% with a range of 0.9-16.7%. 80% of the patients had HbF values below 8% and 94% had HbF levels below 10%. No significant difference in haematological parameters was seen between those with less than 2% HbF and those with greater than 8% HbF. The presence (+) or absence (-) of eight restriction endonuclease enzyme sites within the beta s globin gene cluster (haplotype) on chromosome 11 were mapped. The common haplotype (- - - - + + - +) in 97% of the chromosomes examined closely correlates with the low levels of foetal haemoglobin generally observed in sickle cell patients in the same population.
Falusi
A G
AG
Postgraduate Institute for Medical Research and Training, College of Medicine, University College Hospital, Ibadan, Nigeria.
Kulozik
A E
AE
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D009549:Nigeria; D012150:Polymorphism, Restriction Fragment Length
D005914:Globins; D005319:Fetal Hemoglobin