What is hemophilia type A

Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to control bleeding.

What are the symptoms of hemophilia A and B?

• Bleeding into joints with associated pain and swelling.
• Blood in the urine or stool.
• Bruising.
• Gastrointestinal tract and urinary tract bleeding.
• Nosebleeds.
• Prolonged bleeding from cuts, tooth extraction, and surgery.
• Bleeding that starts without cause.

What is the life expectancy of a person with hemophilia A?

Estimated median life expectancy of patients with hemophilia was 77 years, 6 years lower than the median life expectancy of the general Dutch male population (83 years).

Is Hemophilia A bad thing?

Hemophilia can result in: Bleeding within joints that can lead to chronic joint disease and pain. Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis. Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.

Who is at risk for hemophilia?

Who Is at Risk? Men born into families with a history of hemophilia in other relatives are at risk. To understand the inheritance of hemophilia, we need to talk a little about genetics. Males have an X chromosome from their mother and a Y chromosome from their father.

Can females have hemophilia?

Hemophilia can affect women, too When a female has hemophilia, both X chromosomes are affected or one is affected and the other is missing or non-functioning. In these females, bleeding symptoms can be similar to males with hemophilia. When a female has one affected X chromosome, she is a “carrier” of hemophilia.

How do you diagnose hemophilia?

Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing. You will probably be missing the same one.

What are the symptoms of a blood clotting disorder?

• Yellowing of the skin (jaundice)
• Pain in the upper right abdomen.
• Abdominal swelling.
• Nausea.
• Vomiting.
• Feeling unwell.
• Confusion.
• Sleepiness.

Why is it called Christmas disease?

Hemophilia B is also known as Christmas disease. It is named after the first person to be diagnosed with the disorder in 1952, Stephen Christmas. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 4,000 individuals in the United States.

How do you stop a hemophilia bleed?

For some people with mild or moderate hemophilia A, treatment with desmopressin acetate (DDAVP) can be enough to stop bleeding. First Aid with rest, ice, compression and elevation — known as RICE — helps slow bleeding. RICE is also important while a bleed heals, which can take several days or even weeks.

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What happens if hemophilia is not treated?

Internal bleeding can put pressure on the joints, causing severe pain. Left untreated, frequent internal bleeding can cause arthritis or destruction of the joint. Infection. If the clotting factors used to treat hemophilia come from human blood, there’s an increased risk of viral infections such as hepatitis C.

What is the leading cause of death among hemophiliacs?

AIDS remains the most common cause of death in patients with severe hemophilia. Indeed, HIV-infected individuals are more likely to die of that disease than from hemophilia.

What are the 3 types of hemophilia?

• Hemophilia A: Caused by a lack of the blood clotting factor VIII; approximately 85% of hemophiliacs have type A disease.
• Hemophilia B: Caused by a deficiency of factor IX.
• Hemophilia C: Some doctors use this term to refer to a lack of clotting factor XI.

What ethnic group is most affected by hemophilia?

The average age of persons with hemophilia in the United States is 23.5 years. Compared to the distribution of race and ethnicity in the U.S. population, white race is more common, Hispanic ethnicity is equally common, while black race and Asian ancestry are less common among persons with hemophilia.

Is Bleeding time normal in hemophilia?

11, 12 The bleeding time is said to be normal in hemophilia because platelet adhesion and aggregation in response to ADP are normal, and because the mechanism that is initiated by tissue factor in the absence of factor VIII coagulant activity can apparently generate enough thrombin to stop bleeding from the small …

What is life like with hemophilia?

With access to clotting factor, many people can now prevent major bleeds and live a normal life. However, around 30 percent of those with the disease will die from a bleeding-related incident. The most life-threatening is intracranial bleeding.

How do hemophiliacs deal with periods?

To help control menstrual bleeding, hemophilia treatment center (HTC) doctors may prescribe birth control pills or Stimate nasal spray which both boost factor VIII and von Willebrand factor levels.

What disease is called Christmas?

Hemophilia B is the second most common type of hemophilia. 1,2. It is also known as factor IX deficiency, or Christmas disease. It was originally named “Christmas disease” after the first person diagnosed with the disorder back in 1952.

Can a hemophiliac have a baby?

If the mother is a hemophilia carrier, there is a chance that the baby will be born with hemophilia. In families with a known history of hemophilia, or in those with a prenatal genetic diagnosis of hemophilia, one can plan special testing for hemophilia before the baby’s delivery.

Can you have hemophilia A and B?

Hemophilia A and B are inherited in an X-linked recessive genetic pattern, so males are commonly affected while females are usually carriers of the disease. Hemophilia A is caused by a deficiency of clotting Factor VIII, while hemophilia B (also called Christmas disease) results from a deficiency of Factor IX.

Why is it rare for a female to have hemophilia?

In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia.

Where is the F9 gene located?

In human, the F9 gene is located on the X chromosome at position q27. 1.

What are the first signs of a blood clot?

• throbbing or cramping pain, swelling, redness and warmth in a leg or arm.
• sudden breathlessness, sharp chest pain (may be worse when you breathe in) and a cough or coughing up blood.

What vitamin deficiency causes clots?

Vitamin K is important for blood clotting, bone health, and more. The main symptom of a vitamin K deficiency is excessive bleeding caused by an inability to form blood clots.

What is Hypercoagulation syndrome?

Abstract. Hypercoagulability can be defined as the tendency to have thrombosis as a result of certain inherited and/or acquired molecular defects. Clinical manifestations of hypercoagulability can be devastating and even lethal.

Can hemophiliacs have surgery?

With careful planning, most surgical procedures can be safely carried out in hemophilia patients, even those who have developed antibodies against clotting factor therapy.

Can hemophiliacs take ibuprofen?

Ibuprofen should be considered as a safe and potentially beneficial antiinflammatory agent in the treatment of carefully monitored hemophiliacs eligible for such therapy.

How do you stop internal bleeding in the arm?

You can rest your arm or leg at first to allow the factor to stop the bleeding. As soon as the pain lets up, begin moving the limb to exercise the muscles. Strong muscles help to protect your joints and reduce joint bleeds.

Do hemophiliacs have thin blood?

A person with hemophilia has problems when a fibrin clot is needed to stop the bleeding. People with hemophilia don’t have enough of certain clotting factors. Because of this, the fibrin clot is not made or is so thin that the bleeding goes on.

What is Factor 8 inhibitor?

Some patients with hemophilia develop antibodies as a complication of their disease. These antibodies to factor VIII or IX are called “inhibitors.” Inhibitors neutralize the administered clotting factor treatment so that bleeding does not stop.

What deficiency causes hemophilia?

Having too little of factors VIII (8) or IX (9) is what causes hemophilia. A person with hemophilia will lack only one factor, either factor VIII or factor IX, but not both. There are two major kinds of hemophilia: hemophilia A, which is a factor VIII deficiency; and hemophilia B, which is a factor IX deficiency.