GENETIC AND HEMATOLOGICAL STUDIES IN A GROUP OF 114 ADULT PATIENTS WITH SC SICKLE-CELL DISEASE

The clinical and biological heterogeneity of sickle cell hemoglobin (H b)C disease (SC disease) is similar to sickle cell anemia, but has a m uch milder course. The effect of genetic factors such as or thalassemi a or P-globin gene haplotype has been analyzed in a limited number of cases. In this work, we report about 114 adult SC patients, aged 15 to 65 years (M/F = 0.93), The frequency of deletional alpha thalassemia (alpha(-3.7)) was found to be about 35%, The coinheritance of an alpha -thalassemia trait with SC disease had no effect on the hemoglobin lev el but hemolysis was significantly reduced. In these patients, as desc ribed for homozygous Hb S individuals, the Hb F level was higher in fe males than in males and in individuals carrying the beta(s)-Senegal ha plotype, This haplotype involves the presence of an Xmnl site 5' to G gamma, which is considered responsible for an increased G gamma/A gamm a ratio. Our survey showed that some genetic factors may modulate hema tological parameters in SC disease. (C) 1998 Wiley-Liss, Inc.