Hemophilia refers to a group of inherited disorders that affects the blood’s ability to clot. There are currently about 20,000 people in the country living with this condition. It poses a great risk to life in case of trauma or injury, which can lead to fatalities especially if a vital organ or the brain is affected. Bleeding into joints and muscles causes morbidity and disability and chronic pain is another effect of the disease.

There are several important things to consider about hemophilia diagnosis and treatment, including the following:

1. Hemophilia in history
The condition has been known and studied extensively since ancient times. The first medical professional who documented it was Abulcasis in the 10th Century. Since then, the inherited nature of the disorder has captured the imagination of the public at large. Known as the “Royal Disease” the mutation for the hemophilia gene was passed from Queen Victoria to the noble families of Europe. Not much was known at that time about hemophilia diagnosis and treatment.

2. Causes
A defective gene that results in the absence of clotting factors in the blood is the cause of hemophilia. The gene is passed from mother to son, although the mother may only be a carrier and unlikely to have the disease herself. For women to have the disorder they must inherit two defective genes from one parent each but this is very rare. Spontaneous genetic mutations can also happen in some rare cases.

3. Diagnosis and treatment
Diagnosis is through an examination of medical history, blood tests and screening, especially because this is an inherited disorder. Blood test results provide information on clotting factor levels, identify the missing ones and determine the level of severity of the disorder. In the case of pregnant women who are carriers of the gene mutation, the fetus can be tested in vitro after the 10th week of pregnancy.

Treatment is through replacement therapy. It can be prophylactic in the case of patients with Hemophilia A. On-demand therapy is needed when bleeding occurs and turns uncontrollably. There is research ongoing on gene therapy and protein synthesis with recombinant DNA technology.

Hemophilia can be a life-altering disease in multiple cases as its patients are forced to adjust to varying challenging situations and conditions such as:

• Frequent bleeding episodes
• Shorter life expectancy
• Disabling arthropathy
• Activity and social life limitations
• Need for assistive devices like a cane, wheelchair, etc for mobility
• Inability to study in a community/educational institution, work or pursue a career
• Infection-related problems: Hepatitis B and C, HIV, etc
• Need for frequent emergency treatment

But, advancements in research have resulted in the following:

• Many adult hemophilia patients have learned home-infusion.
• Joint-morbidity which is a side-effect of the disorder can be kept at a minimum with medication, regular monitoring, and a low-impact exercise regimen.
• Recombinant clotting factors are gaining ground as a treatment of choice as they eliminate the risk of developing infections from donor blood.
• Individualized treatments are being customized to the person’s age, activity levels, bleeding patterns, musculoskeletal health, level and nature of coagulation factors.