Prevention and screening of sickle-cell anemia to be given priority for research in the Greater Paris Region
- Category: Innovative care news
- Published: Tuesday, 23 May 2017 12:29
conference on prevention and screening for sickle-cell anemia was held at Imagine Institute in Paris on 24 April last, organized by Professors Marina Cavazzana (Biotherapy Department, APHP, Necker) and Arnold Munnich (Genetics Department, APHP, Necker, President, Imagine Foundation, Paris).
The one-day conference, organized by Imagine Institute in close collaboration with AP-HP, Eurobio and Biomedomics, focused on prevention and early detection for a disease that can prove fatal if not treated.
To date, the only curative treatments available for sickle-cell anemia are isograft and allogenic hematopoeitic stem cell transplantation as part of gene therapy. The conference presentations confirmed the importance and need for neonatal and preconception screening for the disease – the crucial importance of which was underlined by the designation of gene therapy for sickle-cell anemia as a priority research area (Domaine d’Intérêt Majeur) for the next four years in the Greater Paris region, confirmed by representatives from the region and the Mayor's office. The program will be coordinated by Professor Cavazzana.
Sickle-cell anemia is a serious form of congenital anemia. The autosomal recessive disease is caused by a mutation in the part of the gene that codes for ß-globin with the result that abnormal globin is produced. The mutant hemoglobin polymerizes and deforms the red blood cells. In turn, this distortion alters the blood flow in the patient's microcirculation and obstructs the supply of oxygen to the tissues. The result is chronic hemolytic anemia and iterative vaso-occlusive crises leading to severe acute complications and chronic complications affecting many of the organs, including functional asplenia, pulmonary hypertension, renal failure, and liver damage.
Sickle-cell anemia affects more than 20,000 patients in the Greater Paris region.