Haemophilia, known as a bleeding disorder, is a rare hereditary condition that occurs because of the deficiency of a blood clotting factor. This is why it takes more time for the blood to clot in haemophiliacs compared to normal individuals. In severe cases, it may cause internal bleeding, which in turn can lead to death (if untreated). Haemophilia occurs in about 1 of every 5,000 male births. In India, the incidence of haemophilia is nearly 1 in 5000 males. This condition is more common in males compared to females. It has been postulated that in our country around 1300 children are born with haemophilia every year.
There are many different types of haemophilia, but the two most common types are:
Haemophilia type A
This is also known as classic haemophilia. This disease is caused because of the lack of blood clotting factor VIII.
Haemophilia type B
This is also known as the Christmas disease. It is caused because of lack of or decreased production of clotting factor IX.
Bleeding is a primary symptom of haemophilia. This can occur in the following ways.
Causes
Haemophilia is a blood clotting disorder that can internally as well as externally cause bleeding. This indicates that even a simple fall without any external signs of injury can cause internal bleeding, thereby damaging the internal organs. Some of the health complications caused because of internal bleeding in haemophiliacs are
If there is a family history of haemophilia, you can test the infant at birth or can even before birth, in the first three months of pregnancy (with Chorionic villous sampling or amniocentesis). Moreover, haemophiliacs are required to follow few precautionary measures to lead a healthy life. Here are some of them --
The diagnosis of haemophilia includes screening tests and clotting factor tests.
A screening test is a blood test that shows if the blood is clotting properly. A clotting factor test is also called factor assays; this test is used to examine how long the blood takes to clot. It is used to determine the type of haemophilia and the severity of the disease. Severe haemophilia is diagnosed by one year of age and the diagnosis is confirmed after a panel of coagulation profile is conducted on the patient’s blood. Lab results that indicate haemophilia include --
The best approach to treat haemophilia is to replace the missing blood clotting factor such that the blood can properly clot. This is done by injecting commercially prepared clotting factor concentrates into a person’s vein. Lately, many researchers have focused on gene therapy to identify a relevant cure for haemophilia.
Factor concentrate therapy -- The patients were given factor concentrate therapy. In this, factor concentrates from the plasma were administered. However, with these plasma factor concentrates a number of problems had to be resolved. These plasma factors have to be tested and treated to kill any potential viruses (like HIV and hepatitis) before it is packaged for use. Moreover, fibrinolytics, fibrin sealants can be given.
Fibrin is a fluid-fibre protein involved in the clotting of blood. Because of a lack of factor VIII, the Fibrin becomes fibre without fluid. Now, because of this form of fibrin, when a haemophilia patient bleeds, clotting does not happen. To ensure the blood clots, the patient requires a cryoprecipitate, i.e. fresh frozen blood product prepared from plasma at −80°C. This cryoprecipitate is rich in factor 8 and fibrinogen. The injection of cryoprecipitate is given to the haemophilia patients every 3–6 weeks to restore their clotting capacity.
Recombinant clotting factor -- Because factor concentrate therapy has multiple drawbacks, the mainstay of treatment currently is recombinant clotting factor concentrate. Known as recombinate, this treatment is extremely expensive because each unit of recombinate costs ~ten rupees. A 10 kg child with intracranial bleed requires a dose after every 8 h, and each dose costs 5000 rupees.
Other treatment options that can be administered are listed below:
As haemophilia is a life-long disease, there are certain lifestyle modifications that should be implemented.
Prognosis
The type of haemophilia and the severity of it are factors that determine the prognosis of haemophilia. Because of the use of clotting factors, haemophiliacs can live a near-normal and practical life.
Complications
Internal Bleeding- This bleeding can compress nerves leading to a numb feeling or pain.
Joint damage- If bleeding is severe, the excess internal blood may cause extra pressure on the joints causing arthritis or joint destruction.
Infection- There is a risk of infection because of repeated blood transfusions and contaminated blood products.
Adverse reactions to treatment with clotting factors- In some cases, the immune system may produce inhibitors that inactivate the clotting factor’s function, which makes the clotting factor treatment ineffective.
Alternative therapies help in reduce stress, perception of pain, improve sleep, and improve overall well-being. Before initiating any alternative medicines, it is best to inform the treating physician. This is because certain alternative medication may interfere with the clotting treatment or have any other drug interactions. Some of these therapies are mentioned below.
Diagnosis and classification help guide the treatment and management of haemophilia, typically including clotting factor replacement therapy, prophylactic treatment, and other supportive care as necessary.
Diagnosing haemophilia in women poses significant challenges, primarily due to the absence of a family history of the condition in some cases, societal taboos surrounding menstruation and a lack of awareness about abnormal bleeding.
Early Treatment can reduce joint damage in Severe Hemophilia A cases and by working together India can help to improve the lives of people with hemophilia
Joint injury (haemophilia arthropathy) is the most common haemophilia consequence. Here's how to prevent the progression of chronic joint disease.
World Haemophilia Day is observed on April 17 to raise awareness and bring haemophilia to the attention of policymakers and people. Here's everything you need to know about the disease.
Do you bruise in places that you don't even remember bumping or hurting, and the bruise doesn't go away for months together? Read more about what could cause it.
On the eve of World Hemophilia Day, we share important facts about this awareness campaign that is directed towards empowering people with this condition live better and longer.
World Haemophilia Day is celebrated every year on April 17. Read on to know more about this day and the common symptoms of this bleeding disorder.
Characterised by heavy and frequent bleeding, hemophilia is a genetic blood disorder that occurs due to the absence or low levels of clotting factors (proteins that help in clotting) in your blood. On World Hemophilia Day today, read on to know everything about this disorder.
Apart from opting for treatments, you need to take significant lifestyle measures to improve the quality of life while suffering from hemophilia or other bleeding disorders. On this World Hemophilia Day, we tell you how what all you can do to live better with this condition.
Engaging in sporting activities can improve the life quality of people with hemophilia and other bleeding disorders, says study. On this World Hemophilia Day, we share with you a list of 'hemophilia-safe' activities recommended by the World Federation of Hemophilia.
Hepatitis is an inflammatory condition of the liver. Here is a guide to know everything about this inflammatory condition.
Dr Pradeep Mahajan, Regenerative Medicine Researcher, Mumbai talks to us about the condition and the latest treatments available
An updated Haemophilia India website (www.haemophilaindia.com) was also launched for e-learning.
Here are things you need to know about pregnancy and hemophilia.
PhotosDid you know hemophilia was called 'the royal disease'?
An expert tells you if you can prevent hemophilia.
World Hemophilia Day is an opportunity to help people with bleeding disorders live healthier, longer and more productive lives by educating and empowering them through knowledge sharing.
A single treatment with a gene therapy drug has shown promise in curing patients with haemophilia
Renowned hematologist Dr Sanyal explains complications and advances in the treatment of hemophilia.
Hemophilia patients in Indianow have more treatment options as global biotechnology major Shire announced that doctors in India can now prescribe ADVATE, a widely used treatment for Hemophilia A.
On World Hemophilia Day, here's real life story of a hemophilia patient and how he fought against the odds to lead a normal life.
Only 15 percent of people in India suffering from haemophilia -- a genetic and life-threatening bleeding disorder -- have been identified while the remaining still lay undiagnosed, health experts said on Monday.
A wide range of relatively rare diseases - as well as relatively common conditions such as autism, haemophilia and muscular dystrophy - are linked to problems with genes found on the X chromosome.
Diagnosis and classification help guide the treatment and management of haemophilia, typically including clotting factor replacement therapy, prophylactic treatment, and other supportive care as necessary.
Diagnosing haemophilia in women poses significant challenges, primarily due to the absence of a family history of the condition in some cases, societal taboos surrounding menstruation and a lack of awareness about abnormal bleeding.
Early Treatment can reduce joint damage in Severe Hemophilia A cases and by working together India can help to improve the lives of people with hemophilia
Joint injury (haemophilia arthropathy) is the most common haemophilia consequence. Here's how to prevent the progression of chronic joint disease.
World Haemophilia Day is observed on April 17 to raise awareness and bring haemophilia to the attention of policymakers and people. Here's everything you need to know about the disease.
Do you bruise in places that you don't even remember bumping or hurting, and the bruise doesn't go away for months together? Read more about what could cause it.
On the eve of World Hemophilia Day, we share important facts about this awareness campaign that is directed towards empowering people with this condition live better and longer.
World Haemophilia Day is celebrated every year on April 17. Read on to know more about this day and the common symptoms of this bleeding disorder.
Characterised by heavy and frequent bleeding, hemophilia is a genetic blood disorder that occurs due to the absence or low levels of clotting factors (proteins that help in clotting) in your blood. On World Hemophilia Day today, read on to know everything about this disorder.
Apart from opting for treatments, you need to take significant lifestyle measures to improve the quality of life while suffering from hemophilia or other bleeding disorders. On this World Hemophilia Day, we tell you how what all you can do to live better with this condition.
Engaging in sporting activities can improve the life quality of people with hemophilia and other bleeding disorders, says study. On this World Hemophilia Day, we share with you a list of 'hemophilia-safe' activities recommended by the World Federation of Hemophilia.
Hepatitis is an inflammatory condition of the liver. Here is a guide to know everything about this inflammatory condition.
Dr Pradeep Mahajan, Regenerative Medicine Researcher, Mumbai talks to us about the condition and the latest treatments available
An updated Haemophilia India website (www.haemophilaindia.com) was also launched for e-learning.
Here are things you need to know about pregnancy and hemophilia.
An expert tells you if you can prevent hemophilia.
World Hemophilia Day is an opportunity to help people with bleeding disorders live healthier, longer and more productive lives by educating and empowering them through knowledge sharing.
A single treatment with a gene therapy drug has shown promise in curing patients with haemophilia
Renowned hematologist Dr Sanyal explains complications and advances in the treatment of hemophilia.
Hemophilia patients in Indianow have more treatment options as global biotechnology major Shire announced that doctors in India can now prescribe ADVATE, a widely used treatment for Hemophilia A.
On World Hemophilia Day, here's real life story of a hemophilia patient and how he fought against the odds to lead a normal life.
Only 15 percent of people in India suffering from haemophilia -- a genetic and life-threatening bleeding disorder -- have been identified while the remaining still lay undiagnosed, health experts said on Monday.
A wide range of relatively rare diseases - as well as relatively common conditions such as autism, haemophilia and muscular dystrophy - are linked to problems with genes found on the X chromosome.
Hemophilia drugs needs to be disseminated carefully
Do you know what haemophilia is? Here's a video explaining how it happens and why men suffer from it.
Watch the story of these two young men coping with haemophilia from their childhood.
