Tag Archives: Very Rare disease in the World

Very Rare and most expensive disease in the World

Hemophilia is an orphan disease because of its low incidence in the population, but it is one of the ones that has the most impact because of its high cost.

Hemophilia is hereditary disease consisting of a genetic defect: the lack of coagulation factor. While a patient with normal levels of anticoagulant factor in the blood presents hemorrhages only when it is struck strongly or is cut with some element, the patients with hemophilia suffer from constant bleeds, which are generated spontaneously

According to an internist hematologist and scientific advisor to the US League of Hemophilia, this disease has a very defined pattern of inheritance: mothers are the carriers, but their male children are the ones who develop the disease. However, a woman with the genetic defect has a 50 percent chance of having a healthy male child and 50 percent of having the disease.

In US, only 4,000 people suffer from this disease. Most are diagnosed between two and three years of age when they begin to walk, fall and present bruises on their body. This is done with a test of blood clotting factor levels. But today, thanks to advances in technology, this analysis can be done in the prenatal stage. Depending on the levels that are revealed in the examinations, and of the scale that each patient presents, the pathology is classified as mild, moderate or severe.

The quality of life of the patients depends on the degree of the pathology. In patients with severe or severe hemophilia, coagulant factor levels may be as low as 1 percent, requiring special care. Patients of mild or moderate category can have a normal life with sporadic controls and medical attention only when they present some type of bleeding. ” Severe or severe patients should be under the care of a multidisciplinary medical group, in a specialized hemophiliac center , “.

The treatment for patients with severe hemophilia consists of providing the factor responsible for blood clotting to keep bleeding under control and is estimated to cost approximately 70 million pesos per patient per year. It is a disease that has 100 percent coverage by the health system and that is why in Colombia, very good treatment is given to patients with hemophilia. “In fact, it is the country that has the highest coagulant factor consumption, above Brazil , Mexico and Argentina, “says the specialist.

One of the most famous cases of women bearing the genetic defect in world history is that of Queen Victoria of England. She had children carriers and hemophiliacs, so that being a disease of royalty, in Europe and the United States have developed important genetic therapies for the management of the disease that become a hope to find the ultimate cure.