Genetic and hematological studies in a group of 114 adult patients with SC sickle cell disease

✍ Scribed by Lee, K.; Préhu, C.; Mérault, G.; Kéclard, L.; Roudot-Thoraval, F.; Bachir, D.; Wajcman, H.; Denis, L.; Galactéros, F.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 103 KB
• Volume: 59
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199809)59:1<15::aid-ajh4>3.0.co;2-2

✦ Synopsis

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 ␣ thalassemia or ␤-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 ␣ thalassemia (␣ -3.7 ) was found to be about 35%. The coinheritance of an ␣-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 ␤ s -Senegal haplotype. This haplotype involves the presence of an XmnI site 5 to G␥, which is considered responsible for an increased G␥/A␥ ratio. Our survey showed that some genetic factors may modulate hematological parameters in SC disease. Am.