Hemophilia, also known as a bleeding disorder, is a rare hereditary condition that occurs due to deficiency of a blood clotting factor. This is why it takes more time for the blood to clot in hemophiliacs as compared to normal individuals. In severe cases, it may cause internal bleeding that in turn can lead to death (if untreated).
In India, the incidence of haemophilia is nearly 1 in 5000 males. This condition is more common in males as compared to females. It has been postulated that in our country around 1300 children are born with haemophilia every year.
Haemophilia is a blood clotting disorder that can cause bleeding internally as well as externally.
that even a simple fall without any external signs of injury can cause internal bleeding thereby
damaging the internal organs.
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Some of the health complications caused due to internal bleeding in hemophiliacs are --
- Damage of the muscles of the joints due to excess blood pooling in them
- Bleeding in the head causing brain damage
- Damage to other organs in the body (which can ultimately lead to death)
Hemophilia -- genetic basis of the disease
The gene responsible for hemophilia is specifically located
on the X chromosome. It is a known fact that all males
have an XY chromosome while females have XX chromosome. This is
the reason why
males who have the faulty gene are more likely to suffer from hemophilia. Whereas in females,
the second X chromosome makes up for the fault making them less susceptible to
less likely to have the condition. However, these women who have the faulty gene are known as
‘carriers’. Read to know more about genetic inheritance and understanding the causes of hemophilia.
There are many different types of
haemophilia but the two most common types are --
Haemophilia type A -- Also called as Classic
Haemophilia, this disease is caused due to the lack of clotting factor VIII.
Haemophilia type B -- Known as the Christmas disease, it is caused due to lack or decrease production of clotting factor IX.
Here are 5 interesting facts you didn't know about hemophilia.
hemophilia is a genetic disorder, it does occur among families with no prior history. About one-third of newly diagnosed babies have no family history of
haemophilia. These cases are thought to be due to a change or
‘mutation’ of the gene responsible for the production of clotting factor protein. This change or mutation can prevent the clotting protein from working properly or to be missing altogether.
In a very rare condition called
haemophilia’, both the X chromosomes have the faulty gene. In such cases, the woman will suffer from
haemophilia. Read about how to plan a pregnancy if you suffer from hemophilia.
The diagnosis of hemophilia includes screening tests and clotting factor tests.
A screening test -- It is a blood test that shows if the blood is clotting properly.
A clotting factor test -- Also called factor assays, this test is used to see how long the blood takes to clot. It is used to determine the type of
haemophilia and also 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 which indicate hemophilia include --
- Normal platelet count
- Normal bleeding time
- Normal prothrombin time (PT)
- Normal thrombin time (TT)
- Prolonged activated thromboplastin time
- Low level of clotting factors VIII or IX
Read about a hemophiliac’s journey to fatherhood (Real story)
The best way to treat
haemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by injecting commercially prepared clotting factor concentrates into a person’s vein. Lately, a lot of research is going on in the field of gene therapy to find a cure for haemophilia. Here's what an expert has to say about the treatment of hemophilia.
Factor concentrate therapy -- The patients were given factor concentrate therapy, until recently. In this, factor concentrates from the plasma were administered. But with these plasma factor concentrates came a plethora of problems. These plasma factors have to be tested and treated to kill any potential viruses (like HIV and hepatitis) before it is packaged for use. Fibrinolytics, fibrin sealants can also be given.
Fibrin is a fluid-fiber protein involved in the clotting of blood. Due to lack of factor VIII the Fibrin becomes fiber without fluid. Now, due to this form of Fibrin when a hemophilia patient bleeds, clotting doesn’t happen. To get the clotting done patient need cryoprecipitate – 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 hemophilia patients every 3-6 weeks to restore their clotting capacity.
Recombinant clotting factor -- Given the fact that factor concentrate therapy has numerous drawbacks associated with it, the mainstay of treatment currently is recombinant clotting factor concentrate. Known as recombinate, this treatment is extremely expensive as each unit of recombinates cost around ten rupees. A 10 kg child with intracranial bleed requires a dose after every eight hours. Each dose costs 5000 rupees.
Are there any complications in the treatment?
A very small percentage of people (about 10-15%) develop a resistance to the
haemophilia antibody, also called inhibitor. In such cases, the treatment of the conditions becomes extremely difficult as the body does not respond to medication as it normally should. People with inhibitors often experience an increase in joint pains and other complications that arise from this condition, leading to a reduced quality of life. Read about expert tips for caregivers to deal with a hemophilic child.
Hemophilia is not life threatening disease and doesn’t affect life. The repeated transfusion of transmitted disease via blood results in death of these patients. If the plasma is not properly tested and guidelines are not followed, chances of losing a life are there.
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). Apart from this, hemophiliacs need to follow few precautionary measures to lead a healthy life. Here are some of them --
- Avoid having NSAIDs
- Care for their joints
- Don’t shun exercise
- Carry identification at all times
- Travel with care
Here is detailed information on 5 precautions every hemophiliac should take.
The content has been verified by Dr Ramesh C Khurana, Head, Blood Bank, Fortis Escorts Heart Institute (FEHI).