Diverse genetic mechanisms operate to generate atypical betaS haplotypes in the population of Guadeloupe.

In a survey of the chromosomal background associated with the sickle cell gene in Guadeloupe, a French Caribbean island, we identified 37 unrelated patients with sickle cell disease (27 SS, nine SC, and one S-beta-thalassemia) of 477 unrelated sickle cell patients where the beta3 gene was linked to 20 different atypical haplotypes. These atypical chromosomes account for about 5% of the overall betaS chromosomes in this population. To investigate the origin of these atypical betaS haplotypes, we performed extensive typing of betaS and betaA chromosomes.

Prevalence, clinical features, and risk factors of osteonecrosis of the femoral head among adults with sickle cell disease.

This prospective study examined the prevalence, clinical features, and risk factors of osteonecrosis of the femoral head among adult sickle cell disease patients in Guadeloupe. Screening of osteonecrosis of the femoral head was performed using radiography, bone scintigraphy, and tomodensitometry. One hundred thirteen adults with sickle cell disease (67 SS and 46 SC patients) comprised the study population.

Morphological features of the human umbilical vein in normal, sickle cell trait, and sickle cell disease pregnancies.

Pathological changes often occur in the placenta of women with sickle cell disease (SCD). These alterations are caused by sickling of erythrocytes and vasoocclusion in the placental circulation, leading to regional hypoxia. However, the morphological status of the umbilical cord, which is in close physical association with the placenta, is not documented under such conditions.

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.