Know All About Haemophilia, A Bleeding Disorder
People with haemophilia take longer than normal for bleeding to stop. They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding.
world Haemophilia Day: Haemophilia is an inherited condition
What is haemophilia?
Haemophilia is a lifelong inherited bleeding disorder. In haemophilia one of the clotting factor proteins important for blood clotting is either partly or completely missing. People with haemophilia take longer than normal for bleeding to stop. They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding.
There are two types of haemophilia:
• haemophilia A is a deficiency of factor VIII (8)
• haemophilia B is a deficiency of factor IX (9).
What causes haemophilia?
Haemophilia is an inherited condition, which means it can pass from one generation to the next one. The genes responsible for producing factor VIII and IX are on the X chromosome. Females have two copies of the X chromosome and males have one X chromosome and one Y chromosome. If a man has an altered haemophilia gene on his X chromosome, then he will be affected with haemophilia. If a female has an altered haemophilia gene on only one of her X chromosomes, then she is known as a carrier.
In some cases, there is no known family history. This may be due to a spontaneous mutation in the haemophilia gene, or that no affected males have been known in the family.
Females can be affected with haemophilia too. However many females don't show symptoms of haemophilia. Some females who are carriers of haemophilia have reduced factor levels, and can also have symptoms such as frequent and prolonged nosebleeds, heavy or prolonged periods, prolonged bleeding from cuts and easy bruising.
Who is affected by haemophilia?
Haemophilia A affects about 1 in 5,000 of the male population. Haemophilia B is rarer, affecting around 1 in 30,000 of the male population. Around 30-50% of females who are carriers may have milder forms of haemophilia. Haemophilia affects people of all ethnic origins and from all parts of the world.
How severe is haemophilia?
Haemophilia is classed as severe, moderate, or mild depending on how much clotting factor is missing. The level of factor VIII or factor IX in the blood is measured by a specialist laboratory. In general, the lower the level, the more bleeding problems the affected person will have without treatment.
The diagnosis of haemophilia may be expected or suspected where there is a family history, or it may be completely unexpected. The following investigations lead to the diagnosis:
• History, signs and symptoms of bleeding
• Family history of bleeding
• Family history of haemophilia
• Blood tests – a general test of blood clotting called a clotting screen which can be performed at all hospitals may suggest haemophilia and lead to referral for specific tests for factor VIII and factor IX.
Different types of treatments are available for managing haemophilia and may vary depending on how severe it is.
Clotting factor concentrates (CFCs) - Bleeding can be controlled or prevented by replacing the missing clotting factor in the blood through an infusion of clotting factor concentrate. The level of factor VIII or factor IX is increased temporarily, so infusions need to be repeated. For some minor bleeding episodes, one infusion may be enough to stop bleeding. Recombinant factor VIII and factor IX concentrates are made using genetic technology and aren't made from blood.
A medical drug can be used for milder forms of haemophilia A. It releases factor VIII stored in the lining of blood vessels, which can be enough to control minor bleeding episodes and to prevent bleeding from minor operations including dentistry. It is given as a subcutaneous injection or as a nasal spray. It can't work for severe haemophilia.
A medicine that helps to hold a clot in place once it has formed. It can be particularly helpful for bleeding in the mouth, nosebleeds or heavy periods.
Extended half-life -EHL products are clotting factor concentrates which are as effective as standard concentrates. However, instead of giving factors every day, the frequency of these EHL products could be once in a few days to up to once in 7-10 days.
A monoclonal antibody that mimics the function of missing factor VIII. It binds to other clotting proteins and thereby induces a clot. It is given subcutaneously and can be used in patients with inhibitors as well.
A drug that targets proteins which break down clotting factors. It can therefore correct the coagulation imbalance and prevent bleeding.
Gene therapy is a treatment technique that uses genes or genetic material to treat or prevent disease. Following extensive trials for gene therapy in haemophilia this has now become available although not available in India yet.
Managing joint bleeds with PRICE method
Along with the clotting factor infusion and pain relief, the following steps help with recovery and comfort.
• Protection- Try to keep the weight off the joint or muscle for a couple of days.
• Rest -Stay off it or don't use it. This helps with healing.
• Ice - For 10-15 minutes every two hours. This can help with pain and swelling.
• Compression- using elastic bandages can help reduce swelling.
• Elevation Raise and support the affected arm or leg to reduce swelling.
Patients with haemophilia do not have an increased risk of contracting COVID 19. However, there may be small subset of patients with inhibitors take immunosuppressive medications. These patients need to be more vigilant as they could be more susceptible to infections. They should follow all government guidelines including vaccination. Since the vaccine is given intramuscularly, it may be advisable to take factor before vaccination. It is advisable to take suggestions from healthcare experts for this condition.
With the availability of factors, people with haemophilia are living longer and a subset of patients lead near normal lives. Management of other comorbidities if present like diabetes, hypertension, heart and kidney disease is important. Some medications may include antiplatelet agents which can make the blood thin. Similarly, patients with diabetes may need to take regular insulin injections. Some patients with kidney disease may need dialysis. It is recommended to visit a haematologist to devise a care plan to manage the particular condition, to minimize bleeding while receiving treatment for these.
(By Dr. Sameer A. Tulpule, Consultant, General Haematology, Haematolo-Oncology and Bone Marrow Transplantation, Kokilaben Dhirubhai Ambani Hospital)
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