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Haemophilia is a serious inherited bleeding disorder. Where a person lacks essential blood clotting factors, which slows down their blood clotting process. Haemophilia occurs in 1 out of 6,000-10,000 males internationally. It has been reported that out of 400,000 people living with Haemophilia worldwide, only 25% receive adequate treatment.
It can lead to a condition where the person bleeds easily and loses excess of blood due to prolonged bleeding. A clotting factor is a protein in the blood, which controls bleeding. Due to the lack of these clotting proteins (Clotting factors). The blood is unable to clot properly, which leads to spontaneous bleeding or bleeding due to injury or surgery.
A small cut is not that big of an issue. However, internal bleeding that can damage organs and tissues in the body can be dangerous and life-threatening. Bleeding in the joints can cause chronic disease that is intensely painful. While bleeding in the brain can cause seizures and long-term paralysis.
The Science Behind Haemophilia
Haemostasis is a process which ceases the bleeding, in order to keep the blood within the damaged blood vessel.
It occurs in 3 major steps; vascular spasm which is the first step, as the blood vessels constrict to allow less blood to be lost. In the second step, platelet plug formation, platelets start to stick together to form a temporary seal to cover the break in the vessel wall.
The third and last step is blood coagulation, which strengthens the platelet plug with fibrin threads that act as a “molecular glue”.
Haemophilia occurs when a mutation or change occurs in one of the genes that provide instructions for the production of clotting factor proteins, to form a blood clot. This results in reduced production or deficiency of the clotting factors.
The F8 and F9 gene situated on the X-chromosome gives instruction for the production of coagulation factors VIII and IX respectively. A mutation in the F8 gene causes Haemophilia A. while a mutation in the F9 gene results in Haemophilia B.
Symptoms to Look Out for…
- Excessive bleeding due to cuts or injuries or after surgery
- Pain, swelling or tightness in the joints
- Blood in the urine or stool
- Swollen joints that are hot to the touch and painful to bend
- Many deep bruises
- An injury where the bleeding won’t stop
- Spontaneous nosebleeds
Types of Haemophilia
There are 2 major types of haemophilia: Type A and Type B
Type A Haemophilia
Occurs due to the lack of clotting factor VIII in the blood. It is a rare condition and affects about one in every 10,000 males.
Type B Haemophilia
Also called Christmas disease and occurs due to the lack of clotting factor IX in the blood. It affects about one in every 50,000 males.
Possible Treatments & Cure
The treatment plan for haemophilia depends on the severity of the condition. However, the main treatment for haemophilia is replacement therapy, where the lacking clotting factor is slowly dripped or injected into a vein.
Another option is recombinant clotting factors, which are synthetically produced clotting factors in a laboratory. It is now considered a better choice as they further reduce the risk of transmitting infections that are carried in human blood.
For mild Haemophilia A patients, desmopressin, a man-made hormone that stimulates the release of clotting factor VIII, and anti-fibrinolytic medicines that prevent clots from breaking down, are recommended.
Maybe in the future, Gene therapy will also be an option for Haemophilia treatment.
Preventive Measures for Haemophilia
Haemophilia is an inherited disorder, which means that it is transmitted from the mother to the child. So, the best possible preventive measure would be to have a medical history checked, then go for diagnostic testing.
Genetic testing is recommended for couples with a family history of haemophilia, who may want to find how likely it is that their child would be born with the condition.
The Genetic analysis of the F8 gene identifies a mutation in up to 98% of people who have haemophilia A. whilst analysis of the F9 gene identifies a mutation in over 99% of those who have haemophilia B.
Tests can also be performed to check for the gene during pregnancy either by amniocentesis or chorionic villus sampling.
Although there is no cure for haemophilia. But, with the right treatment, care, and lifestyle changes, those who suffer can lead a fulfilled life. We, at TabletShablet, aim to fight the cause and create awareness among people for Haemophilia. So, let’s make this Haemophilia Day, an awareness day to people all around the world.
I hope that you find this blog informative and helpful to you. Feel free to share, like and comment in the section below.
Stay Aware to Stay Safe