What is Haemophilia?
This medical condition is made up of a number of hereditary disorders that make it hard of the body to coagulate or clot blood. Without the ability to coagulate, the blood vessel will continue pumping out blood when it is broken or severed. It is considered a sex-linked recessive disorder that rarely affects females.
The levels of blood plasma clotting factor are drastically lowered, and it is a primary component needed for the formation of blood clots. This means that a scab will be able to form. However, fibrin formation is prevented. A person with haemophilia will bleed just as much as that of a person with normal clotting factors. However, he will bleed for a longer time. A slight injury can cause the patient to bleed for days or even weeks, and the lesion will never completely heal.
Types of Haemophilia
- Haemophilia A is a condition that is inherited wherein there is a clotting factor VIII deficiency. Those with less AHF (anti-hemophilic factor) will experience increased bleeding and females are rarely affected. The f8 gene is responsible for encoding clotting factor VIII in humans. 80% of existing cases of haemophilia are made up of this type.
- Haemophilia B is a genetic disorder that makes up 20% of the haemophilic population wherein the individuals have a deficiency of clotting factor IX. This is otherwise called the Christmas factor which is why haemophilia B is also termed the Christmas disease. This is an recessive X-linked genetic disorder which is why females rarely fall prey to this disease.
- Haemophilia C is the mildest form of haemophilia. This condition affects both males and females. However, it should be noted that it rarely affects other races except for Jewish people of Ashkenazi descent. Unlike haemophilia A and B, this inherited problem does not lead to bleeding into one’s joints. This condition is caused a coagulation factor XI deficiency. Plasma thromboplastin antecedent (coagulation factor XI) is factor Xia’s zymogen form. It is a serine protease like most of the other coagulation factors. It is encoded by the f11 gene in humans.
Signs And Symptoms
1) Bleeds
Episodes of internal or external bleeding will be present. Individuals with severe cases of haemophilia will be prone to more episodes with longer periods of bleeding without cessation. Those with milder forms will have minor bouts, which may occur after a surgery or major trauma.
2) Prolonged periods of bleeding with re-bleeding
Joint bleeds are more commonly observed. This happens when the blood enters the joint spaces. This rarely happens in moderate haemophiliacs but is common for those with severe forms of the disease. This may happen on its own without any form of trauma.
3) Large unexplainable bruises
Children may not have signs of the problem, especially if they do not get circumcised. However, as they grow older, the parents may observe large hematomas due to minor injuries when they learn to walk and move around on their own. In most cases, mild haemophiliacs will notice prolonged bleeding after dental procedures, surgeries or accidents.
Some Signs of Haemophilia C in Females
1) Prolonged menstrual bleeding.
2) Heavy or frequent nosebleeds.
3) Prolonged bleeding after an injury.
4) Faint to heavy traces of blood in the urine sample.
Reason Why Females Are Rarely Affected With The Disease
Haemophilia is an X-linked genetic problem. Women have two X-chromosomes while males possess one Y and one X chromosome. A woman who is a carrier of this genetic defect on one of her X chromosomes may not be affected because her other X-chromosome has an equivalent allele which will then produce the necessary clotting factors required.
If a man receives his X-chromosome from a woman who is a carrier of the defective gene, there will be a 50% possibility of being a haemophiliac. Women rarely inherit the disease because in order to become a haemophiliac, a woman must receive two deficient X-chromosomes from her parents. However, at present, there are more haemophiliac women because due to improved treatments, there are more haemophiliac males who have survived and sired children.
