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Haemophilia is known as ‘Royal Disease’ as it featured prominently in European royalty, With Queen Victoria passing mutation to her son and through her daughter to various royals across the continent. But it’s not ‘royal’ to have this bleeding disorder with its immediate and long-term complications. On World Haemophilia Day 2022, let us all get together and actively support The World Federation of Haemophilia (WFH) 2022-23 campaign in which the theme of the event this year is “Access for All: Partnership. Policy. Progress. Engaging our government, integrating inherited bleeding disorders into national policy”.
This important event is about bringing the global bleeding disorders community together. By raising awareness and bringing haemophilia and other inherited bleeding disorders to the attention of policymakers, we can increase sustainable and equitable access to care and treatment.
In context of India, since 1983, Haemophilia Federation India (HFI) is the only national umbrella organization in India working for the welfare of the people with haemophilia, through a network of 87 chapters spread over four regions. With aim to reach out to haemophiliacs and provide total quality care, education, make treatment available at affordable cost, psycho-social support, and economic rehabilitation and thus help them in improving the quality of life without disability and free of pain.
Haemophilia is a bleeding disorder, mostly an inherited condition (inherited means that the disease is passed from parents to children through their genes). In this, the blood clotting process doesn’t work properly due to deficiency of clotting factors, with the result that person can bleed for longer than normal, that causes bleeding for a long time after injury or surgery and painful swelling of the joints either after injury or even without injury.
Types of haemophilia
There are two main types of inherited haemophilia;
Haemophilia A: This occurs due to low amounts of clotting factor VIII, and Haemophilia B: which occurs due to low levels of clotting factor IX. They are typically inherited from one’s parents through an “X” chromosome carrying a non-functional gene.
Depending on the level of clotting factors haemophilia A and B are graded as mild, moderate and severe. Individuals with less than 1 percent active factor are classified as having severe haemophilia. Some of the cancers, autoimmune disorders and pregnancy are often associated with acquired haemophilia.
Haemophilia A is more common and occurs in about 1 in 5,000 births, while Haemophilia B affects about 1 in 20,000 births.
It is very important to understand the genetic basis of this crippling and sometimes life-threatening disease. The disease of Haemophilia A & B is X linked inherited from the mother, though the disease is present in males. The inheritance is due to a defective gene on the X chromosome. All humans have X chromosomes, in females there are two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to haemophilia.
A male who inherits haemophilia gene on his X chromosome will suffer from haemophilia. If a female has the defective gene on one of her X chromosomes, she is a “haemophilia carrier”. The carrier does not suffer from haemophilia, but they can pass on the disease to their sons. Their daughters do not have the disease, but they may also be carriers. In rare, acquired mutation family history is not present.
Symptoms of this disease vary with severity. Generally, symptoms are external or internal bleeding episodes. People with mild disease suffers from minor symptoms except after surgery or serious trauma. But severe haemophilia patient has more frequent and severe bleeding episodes like deep internal bleeding, bleeding in muscles, joints, severe pain, swelling of joints and disfigurement and debilitating arthritis following recurrent bleeds in joints and life-threatening intracranial haemorrhage. These patients are also at greater risk of developing transfusion transmitted diseases from blood products they receive during treatment.
Haemophilia can be prevented by carrier detection and prenatal diagnosis. Genetic test and counselling can assist in determining the risk of passing the disease onto a child with certain tissue or blood testing. After birth diagnosis of haemophilia is done by testing the blood for its ability to clot and its levels of clotting factors.
Management and treatment of bleeding episodes are done with replacement of deficient factors derived from human sources or using recombinant factors. Mild cases generally do not require clotting factors whereas in severe cases it’s given prophylactically and may continue life-long.
There is a huge gap in prevention and diagnosis of haemophilia with 80 percent cases going undiagnosed in India due to lack of awareness and absence of diagnostic facilities especially in remote areas. So let’s all work together in bridging this Gap with regards to awareness, education, prevention, early diagnosis & management tool easily accessible to all to achieve “Haemophilia without disability, children free of pain”.