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.
Postgraduate Institute for Medical Research and Training, College of Medicine, University College Hospital, Ibadan, Nigeria.
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Falusi
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Kulozik
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