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Genetic and hematological studies in a group of 114 adult patients with SC sickle cell disease
Author(s) -
Lee K.,
Préhu C.,
Mérault G.,
Kéclard L.,
RoudotThoraval F.,
Bachir D.,
Wajcman H.,
Denis L.,
Galactéros F.
Publication year - 1998
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199809)59:1<15::aid-ajh4>3.0.co;2-2
Subject(s) - disease , medicine , hemoglobinopathy , immunology , pediatrics , genetics , biology
Abstract 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 α thalassemia or β‐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 α thalassemia (α ‐3.7 ) was found to be about 35. The coinheritance of an α‐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 β s ‐Senegal haplotype. This haplotype involves the presence of an XmnI site 5′ to Gγ, which is considered responsible for an increased GγAγ ratio. Our survey showed that some genetic factors may modulate hematological parameters in SC disease. Am. J. Hematol. 59:15–21, 1998. © 1998 Wiley‐Liss, Inc.