Research
Gene therapy
In those with severe haemophilia, gene therapy may reduce symptoms to those that a person with mild or moderate haemophilia might have. The best results have been found in haemophilia B. In 2016 early stage human research was ongoing with a few sites recruiting participants. In 2017 a gene therapy trial on nine people with haemophilia A reported that high doses did better than low doses. It is not currently an accepted treatment for haemophilia.In July 2022 results of a gene therapy candidate for haemophilia B called  FLT180 were announced, it works using an adeno-associated virus (AAV) to restore the clotting factor IX (FIX) protein, normal levels of the protein were observed with low doses of the therapy but immunosuppression was necessitated to decrease the risk of vector-related immune responses. See also
Coagulopathy
Purpura secondary to clotting disorders
Von Willebrand disease
World Federation of Hemophilia

References
External links

Haemophilia at Curlie
World Federation of Hemophilia
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. Greenberg characterized the condition in 1988.It has been associated with the lamin B receptor. Signs and Symptoms
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia causes the bones in a fetus to develop abnormally. This leads to a characteristic "moth eaten" appearance of the bones when viewed under an X-ray. Micromelia, polydactyly and ectopic calcification, or the built up of calcium in the soft tissues of the body, may all occur. Eighty to ninety nine percent of effected individuals will have abnormally ossified vertebrae, abnormal pelvis bone ossification, anterior rib punctate calcifications and brachydactyly.The second defining feature of hydrops-ectopic calcification-moth-eaten skeletal dysplasia is hydrops fetalis. A condition wherein an abnormal buildup of fluids occurs in the tissues of a fetus. See also
Ectopic calcification
Hydrops

References


== External links ==