Relationship of foetal haemoglobin levels and βs 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.