Fetal hemoglobin levels and beta s globin haplotypes in an Indian population with sickle cell disease

To further explore the cause for variation in hemoglobin F (HbF) levels in sickle cell disease, the á globin restriction-fragment length polymorphism haplotypes were determined in a total of 303 (126SS, 141AS, 17Sá§, 7Aá§, and 12AA) Indians from the state of Orissa. The ás globin gene was found to be linked almost exclusively to a ás haplotype (+++-++-), which is also common in Saudi Arabian patients from the Eastern province (referred to as the Asian ás haplotype). By contrast, the majority of áA and ᧠thalassemia globin genes are linked to hoplotypes common in all European and Asian populations (+-----[+/-];--++-++). Family studies showed that there is a genetic factor elevating HbF levels dominantly in homozygotes (SS). This factor appears to be related to the Asian ás globin haplotype, and a mechanism for its action is discussed. There is also a high prevalence of an independent Swiss type hereditary presistance of fetal hemoglobin (HPFH) determinant active in both the sickle cell trait and in sickle cell disease.(AU)

Sickle cell disease in Orissa State, India

A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West Africa origin.(Summary)