Exploring Blood Disorders: Haemophilia
12 July 2018
Haemophilia, a hereditary genetic condition affects the blood’s capability to clot. According to The Haemophilia Society, around 26,000 people in the UK have a diagnosis of an inherited bleeding condition, with male carriers dominating the patient database.
What causes Haemophilia?
Haemophilia comes from the Greek words of ‘Haima’ (meaning blood) and ‘philia’ (meaning a tendency towards), and is caused because of a defect in one of the clotting factor genes on the X chromosome. There are 13 types of clotting factors, and these work with platelets (small blood cells that form in a bone marrow) to help the blood clot.
Haemophilia can be also acquired because of a spontaneous genetic mutation, such as changes in the F8 gene that are responsible for haemophilia A, mutations in the F9 gene for Haemophilia B and the F11 gene for Haemophilia C.
According to the World Federation of Haemophilia (WFH) about one in 10,000 are born with this disease, and it occurs in 1 in 5,000 male births.
What are the symptoms?
Depending on the level of clotting factors, signs and symptoms of haemophilia can vary.
The bleedings can occur spontaneously such as sudden nosebleeds, skin cuts, bleeding gums or joint and muscle bleeds. It can also happen as a result of routine medical procedures such as having a tooth removed.
More symptoms include: the appearance of large and deep bruises, unusual bleeding after vaccinations, pain and swelling in the joints, presence of blood in the urine and stool, undefined nosebleeds, headaches, difficulties with vision and unexplained irritability in infants.
What is the risk?
Haemophilia, if untreated, can lead to life-threatening changes that can even result in bleeding in the brain. Moreover, the complications may include deep internal bleeding, damage to joints and adverse reaction to clotting factor treatment.
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