What are the characteristics and symptoms hemophilia?

Symptoms
  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work.
  • Many large or deep bruises.
  • Unusual bleeding after vaccinations.
  • Pain, swelling or tightness in your joints.
  • Blood in your urine or stool.
  • Nosebleeds without a known cause.
  • In infants, unexplained irritability.

What is the trait for hemophilia?

People with hemophilia have low amounts of either factor VIII (eight) or factor IX (nine), key factors responsible for normal blood clotting. A person’s genes provide the instructions on how to make proteins, such as factor VIII and factor IX.

What is the main cause of hemophilia?

Hemophilia is caused by the lack of clotting factor VIII or IX in the blood. In most cases, hemophilia is passed down through families (inherited). Most of the time, it is passed to male children.

Why can only females carry haemophilia?

A females inherits one X chromosome from each parent. A male can have hemophilia if he inherits an affected X chromosome (an X chromosome with a mutation in the gene that causes hemophilia) from his mother.

How hemophilia is diagnosed?

Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity.

Is hemophilia A recessive trait?

Hemophilia is a sex-linked recessive disorder. The abnormal gene responsible for hemophilia is carried on the X chromosome.

Is hemophilia A dominant trait?

The gene with the instructions for making factor is found only on the sex chromosome labeled X. If the gene is faulty, the result is hemophilia unless there is a dominant, normal gene on a matching X chromosome. Hemophilia is a sex-linked recessive disorder. These kinds of defects occur more often in men than in women.

What is hemophilia and how is it inherited?

Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated gene then they will have the disease.

What is the genotype of a person with hemophilia?

Since this is a recessive disorder, one XH allele will give a normal phenotype. When the offspring do not have a XH and only have the Xh allele/alleles they will have the hemophilia condition. Man’s genotype is XhY.

Who carries hemophilia gene?

Carriers of Hemophilia B

A female who has a defect in one of her X chromosomes is said to be a carrier of hemophilia. She carries the gene that may be passed to her children. A mother may be a carrier and may not know that she is a carrier if there is no family history of the condition.

What mutation causes hemophilia?

Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop.

Who is affected by hemophilia?

Hemophilia A mostly affects males but females can also be affected. Approximately 1 in 5,000 newborn males have hemophilia A. Approximately 60% of individuals with hemophilia A have a severe form of the disorder. All racial and ethnic groups are equally affected by hemophilia.

Can hemophilia be cured?

There is currently no cure for hemophilia, a rare bleeding disorder.

Can a woman with hemophilia give birth?

Mothers who carry the hemophilia gene are at risk for serious bleeding after delivery. This is because the high levels of factor VIII during pregnancy fall back to lower levels after delivery. If the woman has low levels of factor IX, then she can bleed after delivery or surgery, such as Cesarean section.

Can someone with hemophilia have a child?

When a hemophilia carrier female is pregnant, there is a 50/50 chance that the hemophilia gene will be passed on to the baby. If the gene is passed on to a son, he will have the disease. If the gene is passed on to a daughter, she will be a carrier.

Is hemophilia A lifetime?

People with hemophilia can expect to have a lifespan and lifestyle that is relatively normal, as long as they are educated about their condition and have adequate treatment. The outlook for people with inhibitors is less hopeful, especially for those who are considered high responders.

How long does hemophilia last?

What is the life expectancy of someone with haemophilia? Life expectancy in hemophilia varies, depending on whether patients receive appropriate treatment. Many patients still die before adulthood due to inadequate treatment. With proper treatment, life expectancy is only about 10 years less than healthy men.

How long do people with hemophilia live?

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).

Why is hemophilia painful?

Acute pain in haemophilia

In haemophilia, bleeding episodes in joints and muscles cause acute pain. Therefore, pain can initially serve as an early warning sign of active joint (or other) bleeds [6,10].

Does haemophilia affect immune system?

Immune abnormalities have been reported in patients with haemophilia. Although infections with HIV and hepatitis viruses contribute to these abnormalities, chronic exposure to extraneous proteins in clotting factor concentrates (CFC) may also play a role.

Why is hemophilia 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 can hemophilia be prevented?

Hemophilia Prevention

Because it’s a genetic condition someone is born with, there is currently no way to prevent the disease, so scientists are constantly investigating ways that the disease can be stopped before it passes to the next generation.