Haemophilia is a genetic disorder in which the body's ability to clot blood, which is required to stop bleeding, is impaired. Haemophilia is a condition caused by a genetic mutation. It entails the mutation of genes that are required for blood clotting. Blood clotting is a complicated process involving 13 different proteins. They are referred to as factors I through XIII.
Haemophilia A is caused by a factor VIII deficiency, while Haemophilia B is caused by a factor IX deficiency. Factor XI deficiency is the cause of haemophilia C. Uncontrolled bleeding and an inability to properly clot the blood characterise this condition. Severe bleeding can result from even a minor cut or injury. Haemophilia is one of many X-linked recessive inherited genetic disorders in which the disorder or dysfunction is caused by a gene on the X-chromosome.
Internal bleeding (known as haemorrhaging) occurs in joints such as the knees, elbows, and ankles, as well as tissues and muscles. This can have serious ramifications, such as swelling and pain in the affected areas. It may even result in permanent damage to the body parts involved. If bleeding occurs in a vital organ, particularly the brain, it has the potential to be fatal.WORLD HAEMOPHILIA FEDERATION (WFH)
It is a non-profit organisation based in the United States that was founded in 1963.
It is a global network of 140 patient organisations that has received official World Health Organization recognition.
Its mission is to improve and sustain care for people around the world who have inherited bleeding disorders.
TYPES OF HAEMOPHILIA DISEASE
The Haemophilia disease is divided into two types. Hemophilia A and Hemophilia B are two different types of haemophilia.
• Haemophilia A lack factor 8
• Haemophilia B lacks factor 9
The signs and symptoms of haemophilia differ depending on the amount of clotting factors in the blood. These clotting factors are blood components that influence the coagulation mechanism. If the clotting factors are decreased significantly, bleeding occurs only after the surgeries. Spontaneous bleeding occurs when the clotting factors are completely eliminated.
• There are several large or deep bruises.
• Swelling and discomfort in the joints (caused by bleeding)
• Bruises or bleeding that isn't clarified.
• There is blood in the urine or stools.
• For a typical cut or fracture, there is more bleeding.
• For no particular cause, the nose bleeds.
• Tooth gums bleed excessively.
• During vaccines, there is unusual bleeding
CURE AND TREATMENT
There is currently no treatment for haemophilia. However, researchers have discovered that the procedure known as gene therapy holds a lot of promise. It is a procedure that involves implanting genes from a healthy individual into the body of a haemophiliac.
Since haemophilia is a genetic condition, it cannot be prevented; however, it can be diagnosed and the consequences of having a baby with haemophilia can be explained to the mother. This condition is only passed down through the females in the family. If a family member has a history of haemophilia, it's best to see a doctor to have a blood test to check the clotting factors, as well as a molecular genetic test to look for carriers in their genes.
According to research on this inherited genetic condition, the mother's genes may be passed down to both of her offspring. Her son has a 50 percent risk of having haemophilia A or B, and her daughter has a 50 percent chance of becoming a carrier of the gene.
WORLD HAEMOPHILIC DAY
• Every year on April 17, Haemophilia Day is observed to raise awareness about haemophilia and other hereditary bleeding disorders.
• Frank Schnabel, the founder of the World Federation of Haemophilia, is honoured on this day (WHF).
• Since 1989, World Haemophilia Day has brought together the entire bleeding disorders community to celebrate ongoing developments in treatment while also raising awareness and bringing knowledge and attention to the problems surrounding proper care to the general public.
ARE MEN MORE VULNERABLE THAN WOMEN?
Men are more susceptible to haemophilia than women due to the genetics involved in determining a child's sex.
A mutation in the X chromosome causes haemophilia. A girl's normal X chromosome will compensate for a faulty X chromosome if she is born with one. She is a carrier of haemophilia in this situation, but she will not develop the disease. She can only develop haemophilia if both her X chromosomes are faulty.
On the other hand, if a boy is born with a faulty X chromosome, he will be born with haemophilia because he lacks the other normal X chromosome to compensate for it. That is why men are more likely to be affected by haemophilia.
HAEMOPHILIA IN INDIA
• Haemophilia A affects about 1 in every 5,000 births worldwide, while Haemophilia B affects about 1 in every 20,000 births.
• However, it is believed that a large number of cases, especially in India, go unreported.
• According to the World Federation of Haemophilia's Annual Global Survey 2017, released in October 2018, there were over 1.96 lakh haemophiliacs worldwide in 2017.
• India has the highest number of people (nearly 20,000) in the country-level data. Approximately 80% of cases go unreported, resulting in a total of nearly 2 lakh cases.