[Recent data in the biology of sickle cell disease (author's transl)].
A great deal of work has been in the recent years concerning sickle cell anemia, both its theoretical aspects and its medico-social consequences being involved. From the pathophysiological point of view, investigations have resulted in a better knowledge of the mechanism of the hemoglobin S polymerization. Other factors such as the role of the membrane, the ionic environment, the rheologic conditions have also been emphasized. These known disorders may explain the high clinical polymorphism of the disease. They are also the basis of a research for a potential specific treatment. Two factors have been specially investigated as potentially responsible for a benign course of the disease, namely fetal hemoglobin and an associated alpha-thalassemia. As a new field of investigation, a DNA polymorphism close to the beta-gene and linked to the mutation itself has been demonstrated. It proves the pluricentric origin of this mutation. It is also a tool for antenatal diagnosis of the homozygous forms of the disease using amniotic fluid cells. Finally the possible direct culture of P. falciparum as allowed a better understanding of the equilibrium between malaria and sickle cell anemia.
D000755:Anemia, Sickle Cell / Q000097:blood / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D005319:Fetal Hemoglobin / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis; D006801:Humans; D013789:Thalassemia / Q000097:blood
D006451:Hemoglobin, Sickle; D005319:Fetal Hemoglobin
Aspects actuels de la biologie de la drépanocytose.