Hemophilia is a rare, hereditary bleeding condition, in which blood may not clot well at the site of the wound. Those with this illness experience prolonged or spontaneous bleeding and bruising after an accident, surgery, or another injury. Even minimal trauma can cause continuous bleeding in patients. It can also cause internal bleeding into the joints, muscles, brain, and other organs. This article sheds light on the types, causes, symptoms, diagnosis, and management of hemophilia.

Types
While there are several types of hemophilia, the most common ones are mentioned here. The most prevalent type diagnosed is caused by a lack of factor VIII, one of the proteins that aid in the formation of blood clots. This is referred to as hemophilia A and is the most prevalent kind of the illness, affecting 1 in 4,000 to 1 in 5,000 males globally. The second category is type B hemophilia, which is caused due to the deficiency of Factor IX. This is also known by the name Christmas disease. Hemophilia B affects around 1 in every 20,000 newborn men globally. Hemophilia C is the rarest form of this condition, affecting 1 in 100,000 people. This condition is inherited when both parents pass on the defective gene to the child.

Causes
Hemophilia is generally a hereditary illness, implying that the ailment is congenital. According to the CDC, hemophilia is a sex-linked recessive illness. It is more common among men. This is due to mutations in genes that provide instructions for generating the coagulating proteins required to produce a blood clot. This alteration can inhibit the clotting protein from functioning correctly or cause it to be absent entirely. These altered genes are found on chromosome X. Males have one X chromosome and one Y chromosome (XY), whereas females have double X chromosomes (XX). The X chromosome is passed down from mothers to sons, and the Y chromosome is passed down from fathers to their sons. Females receive one X chromosome from each of their parents. Many genes on the X chromosome are not found on the Y chromosome. This means that men have one copy of most X chromosome genes, whereas females have two copies. Thus, men have a 50% chance of inheriting an afflicted X chromosome with a variation in the factor VIII or factor IX gene if their mother was a carrier. Women can also get hemophilia, but it is very rare. If anyone X chromosome in women is mutated, they can become carriers and pass the condition on to any children they may have in the future.

Symptoms
Among some of the common symptoms for those with mild and moderate cases of hemophilia are frequent bruising, leading to a prolonged blood buildup or hematoma in the region of the wound. Another symptom is bleeding in the mouth and gums and unstoppable bleeding after losing a tooth. Those who cannot stop bleeding after receiving injections or experiencing nasty nosebleeds could have hemophilia. It is essential to check internal bleeding as well. This usually presents itself through blood in the pee or feces. Those who have much more advanced levels should be aware of worse symptoms like bleeding of the joints, which can subsequently cause swelling, soreness, and tightness, especially if the affected areas are the knees, elbows, and ankles. Patients should also keep an eye out for brain bleeds, especially those with severe hemophilia. It might endanger their life. Those who have sudden behavioral shifts, start violently throwing up, have seizures or spasms, complain of persistent headache and neck ache, feel excessively tired, or complain of double vision should get immediate medical help.

Diagnosis and management of hemophilia
The doctor will perform a physical examination to rule out any other problems. If an individual has hemophilia symptoms, the doctor will enquire about their family’s health history, as this illness is usually inherited. The diagnosis of severe hemophilia in infants is generally made in childhood, mainly after circumcision or when the children have excessive bleeding or bruises due to mild trauma. Doctors assess the amount of factor VIII or factor IX present using blood tests. These tests are used to determine the kind of hemophilia a patient has and whether it is mild, moderate, or severe, based on the coagulation factors in the blood. There is no cure for this illness. The most effective technique to manage hemophilia is to restore the deficient blood clotting factor, allowing the blood to clot normally. Prophylactic action is given to patients that require frequent replacement therapy to avoid bleeding. It is usually meant for those with severe cases of hemophilia A. Demand therapy is for halting the bleeding as soon as it occurs. People with moderate hemophilia may require demand therapy if the bleeding becomes uncontrollable.