A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease?
Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population. Each of them has inherited one sickle cell gene on a chromosome characterized by an arrangement of restriction fragment length polymorphisms (haplotype) which is very rare in the Jamaican population. Genetic analysis of the family suggests that there is a determinant linked to the beta-globin gene cluster, characterized by this haplotype, which is responsible for increased haemoglobin F production in response to anaemia. Interestingly this particular haplotype appears to be common in patients with SS disease in eastern Saudi Arabia in whom a high level of haemoglobin F is the rule rather than the exception. Hence it is possible that this haplotype (++-++) acts as a genetic marker for elevated levels of haemoglobin F in sickle cell disease.
J S
JS
Wainscoat
S L
SL
Thein
D R
DR
Higgs
J I
JI
Bell
D J
DJ
Weatherall
B H
BH
Al-Awamy
G R
GR
Serjeant
D000755:Anemia, Sickle Cell / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005819:Genetic Markers; D006238:Haploidy; D006801:Humans; D007563:Jamaica; D008297:Male; D010375:Pedigree; D012529:Saudi Arabia; D012805:Sickle Cell Trait / Q000235:genetics*
D005819:Genetic Markers; D005319:Fetal Hemoglobin