Hemophilia: A blood clotting disorder

• Hemophilia A is due to the deficiency of factor VIII while Hemophilia B is due to the deficiency of factor IX
• World Hemophilia Day is observed on 17 April every year to raise awareness about hemophilia and other bleeding disorders
• This year’s theme is “Equitable access for all: recognizing all bleeding disorders”
• Every person with a family history of hemophilia should meet a Hematologist before planning a pregnancy for guidance on the prevention of this morbid condition

DR ANKIT JITANI

Hemophilia is a genetic bleeding disorder that prevents blood from clotting in a normal way. It happens due to deficiency of one of the clotting factors present in our blood. Hemophilia A is due to the deficiency of factor VIII while Hemophilia B is due to the deficiency of factor IX. Hemophilia is relatively common with an incidence of 1:5000 male children for Hemophilia A and approximately 1:20000 male children for Hemophilia B. The severity of the disorder depends on the amount of factor deficiency.

As a Hematologist, we do not consider Hemophilia a disease, and people with Hemophilia are not patients. However, any preventable complication arising due to Hemophilia can turn the person into a patient. On the occasion of World Hemophilia Day, let us know how to prevent Hemophilia and how to take better care of a person with Hemophilia.

How is Hemophilia inherited?

Hemophilia is a genetic disease and is passed down from parents to children.

 Are both male and female child at risk for Hemophilia?

The gene for hemophilia is carried on the X chromosome. Since males have one X chromosome, they are much more commonly affected. Females have two X chromosomes. So it is unusual to find a female with hemophilia. However, females may be carriers of one of the mutated X chromosome and pass on the same to their children.

Can a carrier female give birth to a normal child?

For a female carrier, there are four possible outcomes for each pregnancy:

1. A girl who is not a carrier.
2. A girl who is a carrier.
3. A boy without hemophilia.
4. A boy with hemophilia.

The possibilities of the above outcome are equal in every pregnancy. So giving birth to a normal child is possible. However, it is important to ascertain during early pregnancy that the baby is not affected with hemophilia. This is possible through prenatal genetic diagnosis.

 Are all people with hemophilia at risk of severe spontaneous bleed?

Hemophilia is divided in mild, moderate and severe types based on the quantity of factor deficiency. Spontaneous bleeding, mostly in the joints happens only in severe hemophilia when the factor level in less than 1%. Person with moderate and mild hemophilia are at risk of bleeding only during an injury or trauma.

 Can we reduce the bleeding risk on hemophilics?

Prophylaxis is recommended for all hemophilics. This is basically replacement of the factor that the person is deficient with. These factors are administered in the veins through an injection. If we can increase the level of deficient factor to 5%, the risk of spontaneous bleeding almost subsides. The dosage and frequency of the factor replacement depends on the severity, type of hemophilia and also shows person to person variations.

 What are the challenges in factor replacement?

Our challenges in managing hemophilia are unique compared to the west. Some of the challenges are:

1. The major limitation in our country is cost. There are many governmental and NGO based initiatives to make the factor replacement accessible to all. Administration of adequate dose of factor during bleeding events still remains a challenge.
2. The second challenge is easy accessibility to a hemophilia care facility. The facility for factor replacement should be available nearby without involving too much travel to ensure adherence to prophylaxis and adequate factor replacement during bleeding events.
3. Another challenge is in maintaining good venous access, as the injections are administered two to three times every week.
4. Patient on regular prophylaxis are at risk of inhibitor development. These inhibitors render the replaced factor ineffective and further complicate the treatment.

Are there any non-factor based therapies for hemophilia?

Person with hemophilia should maintain good muscle and bone health. Regular exercise after prophylactic factor replacement is crucial. In case of any bleeding event, medicines that help in clot formation like tranexamic acid are used along with the factor. The famous RICE therapy (Rest, Ice application, Compression & Elevation of the limb) during bleeding events helps in pain control. New medicines like Emicizumab are already available with excellent treatment outcome. Medicines like Concizumab, Fitusiran are in clinical trials which will further broaden the treatment options. The potentially curative gene therapy is also under clinical trials.

 How can we prevent birth of a child with hemophilia?

Since hemophilia is a genetic disease, molecular testing during early pregnancy can detect if the developing foetus has hemophilia or not. In case the foetus has hemophilia, the pregnancy can be discontinued. Every person with a family history of hemophilia should meet a Hematologist before planning a pregnancy for guidance on the prevention of this morbid condition.

The author of this article Dr Ankit Jitani is a Senior Consultant, Haematology & BMT, Marengo CIMS Hospital, Ahmedabad