Understanding Hemophilia: Causes, risk and treatment

Authored by Dr. Stallin Ramprakash, Consultant – Paediatric Haematology, Oncology & BMT, Aster CMI Hospital

Imagine you have a minor cut and the bleeding does not stop. This can happen to those people with Hemophilia. It is an inherited bleeding disorder where the body lacks the ability to make blood clots, a process needed to stop bleeding. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Small cuts usually aren’t much of a problem. In severe conditions, bleeding that happens inside the body especially knees, ankles, elbows and brain can damage your organs and tissues and can be life-threatening.

There are several different types of hemophilia. Hemophilia A (Classic Hemophilia) caused by a lack or decrease of clotting factor VIII and Hemophilia B (Christmas Disease) caused by a lack or decrease of clotting factor IX are the two most common types. Hemophilia A is the most common X-linked genetic disease with a worldwide incidence of approximately 1 case per 5000 males, with approximately one-third of affected individuals not having a family history of the disorder. Hemophilia B occurs in approximately 1 in 25,000 male births. It is less prevalent than hemophilia A.

The condition is not curable currently, but it can be treated to minimize symptoms and prevent future health complications. Genetic counselling is the main tool for the prevention and control of genetic disorders, targeted at families with an affected birth or with a family history of the disorder.

What causes Hemophilia and who are at the risk?

Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. The majority of hemophilia cases are congenital which means that a person is born with the condition. One can also develop acquired hemophilia with no personal or family history of hemophilia. However, acquired hemophilia is a rare autoimmune disorder.

The biggest risk factor for developing hemophilia is having family members who also have the disorder. Haemophilia predominantly affects males.

Signs and Symptoms to watch out for

Depending on the level of clotting factors, signs and symptoms of hemophilia vary. In mild conditions, the bleeding is moderate and might bleed only after surgery or trauma. However, in severe cases, one can bleed easily for seemingly no reason.

Some of the common signs and symptoms of hemophilia include:

Bleeding into the joints
Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma)
Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth
Bleeding unusually after vaccinations
Bleeding in the head of an infant after a difficult delivery
Blood in the urine or stool
Nosebleeds without a known cause
Delayed bleeding after an injury

Although very rare, sometimes a simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. It is a state of emergency and immediate medical help must be taken. Severe headache, vomiting repeatedly, seizures, feeling lethargy or seeing double vision or sudden excessively sleepiness are some of the signs.

Diagnosis:

Hemophilia is usually diagnosed through a blood test. It helps identify the type of hemophilia and its severity. Reviewing the symptoms, personal medical history and clinical evaluation are recommended. Since the disorder affects males in general, many people with a family history of hemophilia get their baby boys tested soon after birth.

Treatment:
Treatment focuses on replacing the missing protein and preventing complications. It involves giving or replacing the clotting factors that are too low or missing. This is done by infusing (administering through a vein) commercially prepared concentrated FVIII or FIX product.

In more severe cases, one may need to go to physical therapy for rehabilitation if hemophilia has damaged your joints. And, if you have pain associated with the condition, your doctor may prescribe or recommend pain medications to help alleviate the pain.