A study on the medical condition hemophilia its causes symptoms diagnosis and known treatments

Hemophilia treatment

In general symptoms are internal or external bleeding episodes, which are called "bleeds". Males inherit an X chromosome from their mother and a Y chromosome from their father. Bleeding can occur externally or internally. The deficient factor responsible for hemophilia C is only available as a medication in Europe. Hemophilia tends to occur in males, since the gene can be passed from mother to son. When this happens, the immune system develops proteins known as inhibitors that inactivate the clotting factors, making treatment less effective. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. The reason for the production of auto-antibodies is unknown in about half of the cases.

Hemophilia B occurs in about one in 25, male births and affects about 3, people in the United States. The lower the level of protein in the blood, the more severe is the bleeding.

In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.

Hemophilia genetics

Popular sports with very high rates of physical contact and injuries such as American football , hockey , boxing , wrestling , and rugby should be avoided by people with haemophilia. Severity[ edit ] There are numerous different mutations which cause each type of haemophilia. Everyone has two sex chromosomes, one from each parent. Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. Generally, the more healthy sons she bore, the higher the probability that she was not a carrier. Please help improve this section by adding citations to reliable sources. Like hemophilia, the severity of vWD depends upon the level of the blood protein. Children with mild to moderate haemophilia may not have any signs or symptoms at birth especially if they do not undergo circumcision. In many cases, factor products of any sort are difficult to obtain in developing countries. Since the mutations causing the disease are X-linked recessive , a female carrying the defect on one of her X-chromosomes may not be affected by it, as the equivalent allele on her other chromosome should express itself to produce the necessary clotting factors, due to X inactivation. This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. Hemophilia is normally an inherited disorder. A male inherits an X chromosome from his mother and a Y chromosome from his father. Otto, [36] Scientific discovery[ edit ] The first medical professional to describe the disease was Abulcasis.

Hemophilia tends to occur in males, since the gene can be passed from mother to son. A person is born with it.

hemophilia diagnosis

Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. Complications from treatment of hemophilia are possible, such as developing antibodies to treatments and viral infections from human clotting factors.

Damage to joints, muscles, and other body parts can occur if treatment is delayed.

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Hemophilia: Causes, types, symptoms, and treatment