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Jai Ganesh

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Hemophilia

Hemophilia

Gist

Hemophilia is a mostly inherited genetic disorder that affects the blood's ability to clot properly, leading to prolonged bleeding after injuries or even spontaneously. It is caused by deficiencies in specific clotting factors, primarily Factor VIII (Hemophilia A) and Factor IX (Hemophilia B). While more common in males, females can also be affected or carry the gene.

Hemophilia is primarily caused by genetic mutations that affect the body's ability to produce clotting factors, proteins necessary for blood to clot properly. These genetic mutations are typically inherited, following an X-linked recessive pattern. While less common, acquired hemophilia can also occur due to the immune system producing antibodies that interfere with clotting factors.

Summary

Haemophilia (British English), or hemophilia (American English) (from Ancient Greek (haîma) 'blood' and φιλία (philía) 'love of'), is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or an altered level of consciousness.

There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX. They are typically inherited from one's parents through an X chromosome carrying a nonfunctional gene. Most commonly found in men, haemophilia can affect women too, though very rarely. A woman would need to inherit two affected X chromosomes to be affected, whereas a man would only need one X chromosome affected. It is possible for a new mutation to occur during early development, or haemophilia may develop later in life due to antibodies forming against a clotting factor. Other types include haemophilia C, which occurs due to low levels of factor XI, Von Willebrand disease, which occurs due to low levels of a substance called von Willebrand factor, and parahaemophilia, which occurs due to low levels of factor V. Haemophilia A, B, and C prevent the intrinsic pathway from functioning properly; this clotting pathway is necessary when there is damage to the endothelium of a blood vessel. Acquired haemophilia is associated with cancers, autoimmune disorders, and pregnancy. Diagnosis is by testing the blood for its ability to clot and its levels of clotting factors.

Prevention may occur by removing an egg, fertilising it, and testing the embryo before transferring it to the uterus. Human embryos in research can be regarded as the technical object/process. Missing blood clotting factors are replaced to treat haemophilia. This may be done on a regular basis or during bleeding episodes. Replacement may take place at home or in hospital. The clotting factors are made either from human blood or by recombinant methods. Up to 20% of people develop antibodies to the clotting factors which makes treatment more difficult. The medication desmopressin may be used in those with mild haemophilia A. Gene therapy treatment was in clinical trials as of 2022, with some approaches and products having received conditional approval. Haemophilia A affects about 1 in 5,000–10,000, while haemophilia B affects about 1 in 40,000 males at birth. As haemophilia A and B are both X-linked recessive disorders, females are rarely severely affected. Some females with a nonfunctional gene on one of the X chromosomes may be mildly symptomatic. Haemophilia C occurs equally in both sexes and is mostly found in Ashkenazi Jews. In the 1800s haemophilia B was common within the royal families of Europe.[5] The difference between haemophilia A and B was determined in 1952.

Details

Hemophilia is a rare, inherited blood disorder that causes your blood to clot less, which results in an increased risk of bleeding and bruising.

Hemophilia happens because your body doesn’t make enough clotting factors, proteins that help your blood form clots. Clotting factors work with your platelets to form blood clots that control bleeding. Low clotting factor levels increase your bleeding risk.

There are several types of hemophilia. Hemophilia may be severe, moderate or mild based on the amount of clotting factors in your blood.

Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. Providers are researching gene therapy and gene replacement therapy as new ways to treat and possibly cure hemophilia.

Can you develop hemophilia after birth?

Yes, but it rarely happens. Acquired hemophilia, or hemophilia that isn’t inherited, develops when autoantibodies start to attack a specific clotting factor in your blood. (Antibodies are protective proteins your immune system makes. Autoantibodies attack antibodies, essentially attacking your body’s own cells, tissues and proteins.)

Is hemophilia a common disease?

No, it’s not. According to the U.S. Centers for Disease Control and Prevention (CDC) in August 2022, about 33,000 people in the U.S. have hemophilia. Hemophilia typically affects men. Rarely, women may have clotting factor levels that are low enough to develop symptoms like heavy periods.

What are hemophilia types?

There are three types of hemophilia:

* Hemophilia A: This is the most common type of hemophilia. It happens when you don’t have enough clotting factor 8 (factor VIII). The CDC estimates about 10 in 100,000 people have hemophilia A.
* Hemophilia B: Hemophilia B happens when you don’t have enough clotting factor 9 (factor IX.) The CDC estimates about 3 in 100,000 people in the U.S. have hemophilia B.
* Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency. This hemophilia type is very rare, affecting 1 in 100,000 people.

Is hemophilia a serious illness?

It can be. People with severe hemophilia may develop life-threatening bleeding (hemorrhage), but they’re more likely to develop bleeding in their muscles and joints.

Symptoms and Causes:

What are hemophilia symptoms?

The most significant symptom is unusual or excessive bleeding or bruising.

* People with hemophilia may develop large bruises after minor injuries. This is a sign of bleeding under their skin.
* They may bleed for an unusually long time, whether after surgery, after dental treatment or simply from a cut finger.
* They may start bleeding for no apparent reason, such as sudden nosebleeds.

How much bruising or bleeding you have depends on whether you have severe, moderate or mild hemophilia.

* People with severe hemophilia often have spontaneous bleeding or bleeding for no apparent reason.
* People with moderate hemophilia who have serious injuries may bleed for an unusually long time.
* People with mild hemophilia may have unusual bleeding, but only after a major surgery or injury.

Other symptoms may include:

* Joint pain from internal bleeding. Joints in your ankles, knees, hips and shoulders may ache, swell or feel hot to the touch.
* Bleeding into your brain. People with severe hemophilia very rarely develop life-threatening bleeding into their brains. Brain bleeds may cause persistent headaches or double vision or make you feel very sleepy. If you have hemophilia and have these symptoms, get help right away.

What are hemophilia symptoms in babies and children?

Sometimes, male babies are diagnosed with hemophilia because they bleed more than usual after circumcision. Other times, children develop symptoms a few months after they’re born. Common symptoms include:

* Bleeding: Babies and toddlers may bleed from their mouths after minor injuries, like bumping their mouths on a toy.
* Swollen lumps on their heads: Babies and toddlers who bump their heads often develop goose eggs — large round lumps on their heads.
* Fussiness, irritability or refusal to crawl or walk: These symptoms may happen if babies and toddlers have internal bleeding into a muscle or joint. They may have areas on their bodies that look bruised and swollen, feel warm to your touch or make your child hurt when you gently touch the area.
* Hematomas: A hematoma is a mass of congealed blood that gathers under babies’ or toddlers’ skin. Babies and toddlers may develop hematomas after receiving an injection.

What causes hemophilia?

Certain genes create clotting factors. In inherited hemophilia, the genes carrying instructions for making normal clotting factors mutate or change. The mutated genes may give instructions that end up making abnormal clotting factors or not enough clotting factors. That said, about 20% of all hemophilia cases are spontaneous, meaning you have the disease even though there’s no family history of abnormal bleeding.

Additional Information

Hemophilia is a rare bleeding disorder in which the blood does not clot properly. This can lead to problems with bleeding too much after an injury or surgery. You can also have sudden bleeding inside your body, such as in your joints, muscles, and organs.

Your blood contains many proteins called clotting factors that can help form clots to stop bleeding. People with hemophilia have low levels of one of these factors, usually either factor VIII (8) or factor IX (9). How severe the hemophilia is depends on the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding could happen and might lead to serious health problems.

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