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 (Hb) C disease (SC disease) is similar to sickle cell anemia, but has a much milder course. The effect of genetic factors such as alpha thalassemia or beta-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 level but hemolysis was significantly reduced. In these patients, as described for homozygous Hb S individuals, the Hb F level was higher in females than in males and in individuals carrying the beta(s)-Senegal haplotype. This haplotype involves the presence of an Xmnl site 5' to Ggamma, which is considered responsible for an increased Ggamma/Agamma ratio. Our survey showed that some genetic factors may modulate hematological parameters in SC disease.
Centre de la drépanocytose et des thalassémies, Hopital H. Mondor, Créteil, France.
K
K
Lee
C
C
Préhu
G
G
Mérault
L
L
Kéclard
F
F
Roudot-Thoraval
D
D
Bachir
H
H
Wajcman
L
L
Denis
F
F
Galactéros
D000293:Adolescent; D000328:Adult; D000368:Aged; D001772:Blood Cell Count; D005260:Female; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006450:Hemoglobin SC Disease / Q000097:blood* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics
D005914:Globins