Hemophilia is an inherited blood disorder in which blood does not clot as it should. The condition is characterized by a lack or low levels of certain proteins known as “clotting factors”. There is a variety of hemophilia, and they all have low levels of either clotting factor VIII or factor IX. Medical professionals base the overall severity of the condition on how much factor is present in the blood.
There are three forms of hemophilia A, B, and C
The main cause of all types of hemophilia is a mutation in the genes that usually control and regulate the development of clotting factors which help the blood form clots that seal up wounds.
For Hemophilia A and B, approximately two-thirds of the mutations come from a parent. The remaining can develop as a spontaneous mutation even in individuals without a family history of the condition.
In most cases, hemophilia is diagnosed through a blood test. The doctor will extract a small sample of blood from your vein and check the amount of clotting factor present.
He/she will then grade the sample to determine the severity of the factor and deficiency and the severity of the condition.
Severity levels of hemophilia A include:
Severity levels of hemophilia B include:
Treatment for hemophilia is based on the type one has. The primary objective of treatment is to replace the clotting factors so an individual can form clots and prevent bleeding.
Based on the type of hemophilia, the doctor may prescribe the following:
Hemophilia is an inherited disorder caused by mutations in specific genes that are responsible for producing clotting factors. It is an X-linked recessive disorder, which means that it primarily affects males. Females are usually carriers of the gene mutation and have a lower risk of experiencing symptoms, although some carriers may have mild symptoms.
Common symptoms of hemophilia include: Frequent and prolonged episodes of bleeding, often from minor injuries or without apparent cause. Excessive bruising. Joint pain and swelling, especially in weight-bearing joints. Easy bleeding from the nose or gums. Blood in the urine or stool.
Currently, there is no cure for hemophilia. However, with appropriate treatment and management, individuals with hemophilia can lead active lives and minimize the impact of the condition. Advances in gene therapy research offer potential future options for a more permanent treatment or cure.