Causes Of Hemophilia

October 14, 2023

Hemophilia is a rare blood condition that prevents the body from clotting blood effectively. When anyone gets cut, clotting agents in the blood are meant to combine with platelets (a type of blood cell) to make the blood sticky, which enables it to clot and prevent excessive blood loss. When this function occurs properly, the wound will stop bleeding. However, individuals with hemophilia are unable to do this. When the body has a low level of clotting agents, an injury will bleed for longer than usual.

There are many symptoms of hemophilia, ranging from mild to severe. In addition to prolonged bleeding after experiencing a cut, individuals may get nosebleeds or bleeding gums frequently. The skin can also bruise easily, and patients may experience joint pain and stiffness. Though the condition is rare, there are several factors known to cause hemophilia.

Inherited

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Hemophilia is known to be caused by an inherited mutation. This genetic mutation mainly affects males, though women are susceptible, as well. The mutation occurs on the X chromosome, meaning it can be carried by the father, mother, or both. The chances of a person inheriting the hemophilia mutation will depend on which of their parents possesses the mutated gene. When the mother has the mutation, the baby has a one in four chance of inheriting the gene.

Sometimes, individuals who carry the gene do not show any severe symptoms. However, female carriers are more likely to experience heavy bleeding during their menstrual cycle. If the father is the gene carrier, the likelihood of a child receiving the gene will depend on their sex. Boys inherit their X chromosome from their mothers, while girls can inherit it from their fathers.

Cancer

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This disease is another cause of hemophilia. When the cells of the body begin to multiply and attack themselves, the body becomes weak and malfunctions in a variety of ways. It impedes its ability to protect itself and function properly. There is a strong rate of co-morbidity between cancer and hemophilia, but unfortunately, researchers are still conducting studies to understand this relationship more clearly. Certain intense treatments, like chemotherapy and radiation therapy, are known to have a variety of negative side effects on the body, and destroying blood clotting factors appears to be one plausible explanation. However, further research on the relationship between the hemostatic system and cancer still needs to be conducted.

Multiple Sclerosis

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Though most types of hemophilia are acquired genetically, there is a rare version, called 'acquired hemophilia' that occurs when the immune system turns on the clotting factors in the blood. This has been shown to arise in people with multiple sclerosis (MS). MS is an autoimmune disease that interferes with the nervous system's ability to communicate with the rest of the body. In this disease, the immune system attacks the nerve cells. Common symptoms of multiple sclerosis include loss of balance, poor coordination and mobility, slurred speech, tremors, numbness, becoming easily fatigued, blurred vision, and even paralysis. When the immune system turns on itself, the genes can mutate, leading to hemophilia.

Pregnancy

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During pregnancy, levels of one of the clotting factors (protein factor eight) naturally rise. This can make it difficult to determine a woman's normal base rate of clotting agents. Women who carry the hemophilia gene are at an increased risk of serious bleeding during and after delivery. If a woman has low levels of clotting factors, she is particularly at risk of excessive and dangerous bleeding during and after a Cesarean section. Bleeding from the birth canal is normal when giving birth, but hemophilia can cause postpartum hemorrhage, which requires treatment and intervention to stop the bleeding. Hemophilia can also impact the baby before and during birth, and knowing whether the mother is a carrier of the gene will allow doctors to diagnose the infant.

Autoimmune Disorders

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Having an autoimmune disorder can also lead to the development of acquired hemophilia. Autoimmune disorders develop when the body's immune system turns on itself, attacking healthy cells and tissues mistakenly. When this occurs, the body will produce antibodies that attack the crucial clotting factors in the blood. Individuals with these conditions then develop complications with uncontrollable bleeding, often into the skin, soft tissues, and muscles. This becomes particularly dangerous when the body undergoes surgery or experiences trauma. Bruising, swelling, and the presence of blood in urine and the gastrointestinal tract are all possible, as well, in addition to frequent nosebleeds and heavy menstrual cycles in women.

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