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  • Title: A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease?
    Author: Wainscoat JS, Thein SL, Higgs DR, Bell JI, Weatherall DJ, Al-Awamy BH, Serjeant GR.
    Journal: Br J Haematol; 1985 Jun; 60(2):261-8. PubMed ID: 2408656.
    Abstract:
    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.
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