Thursday 19 June 2014 is World Sickle Cell Disease Day. This is the most widespread genetic disorder in the world: It affects over five million people(1). It can have serious consequences—anaemia, episodes of pain—and may involve different organs or reduced resistance to certain infections.
From the physiological point of view, this disease of the blood is characterised by altered haemoglobin. Haemoglobin is the main constituent of the red blood cell. It is responsible for oxygen transport in the bloodstream, and its distribution to all the organs. The red blood cell becomes deformed, assumes a sickle shape (see illustration), and can no longer circulate through the blood vessels.
Research on sickle cell disease is currently aimed at improving treatments, by gene therapy and other means. Researchers are also studying the molecular mechanisms of the disease and the behaviour of abnormal haemoglobin.
Source (1): orphanet.fr
Henri WAJCMAN Inserm Unit 955, Mondor Institute for Biomedical Research (IMRB) Areas of expertise: Erythrocytes, Haemoglobin, Haemoglobinopathies, Sickle Cell Disease, Thalassaemia, Protein Chemistry 01 49 81 35 78 henri.wajcman@inserm.fr Jacques Elion Inserm Unit 1134, Integrated Red Cell Biology Team/activity: Biology of adhesion molecules and transporters of the erythroid membrane 01 40 03 23 39 jacques.elion@inserm.fr
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