What type of trait is hemophilia

Ben Davis February 17, What type of trait is Hemophilia? What is hemophilia type A? Is Hemophilia homozygous or heterozygous?

Is Hemophilia A deletion mutation? What disease is caused by deletion mutation? How do you detect deletion mutation? What are the 2 types of mutations? What are the major types of mutation?

How do you identify DNA mutations? What are truncating mutations? Why is it called a nonsense mutation? Why is Haploinsufficiency dominant? What is the difference between a point mutation and a silent mutation?

How does point mutation affect an organism? Are point mutations good? How do mutations cause diseases? If a woman has a defective factor VIII gene, she is considered a carrier. This means the defective gene can be passed down to her children.

All female children of men with hemophilia carry the defective gene. Risk factors for hemophilia A include:. Severity of symptoms vary. Prolonged bleeding is the main symptom.

It is often first seen when an infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury.

Internal bleeding may occur anywhere. If you are the first person in the family to have a suspected bleeding disorder, your health care provider will order a series of tests called a coagulation study.

Once the specific defect has been identified, other people in your family will need tests to diagnose the disorder. Treatment includes replacing the missing clotting factor.

You will receive factor VIII concentrates. How much you get depends on:. This medicine helps the body release factor VIII that is stored within the lining of blood vessels. To prevent a bleeding crisis, people with hemophilia and their families can be taught to give factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular preventive treatment. You should get the hepatitis B vaccine.

People with hemophilia are more likely to get hepatitis B because they may receive blood products. But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia.

A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Many women who carry the hemophilia gene also have low factor expression, which can result in heavy menstrual bleeding, easy bruising, and joint bleeds. Some women who have the hemophilia gene have factor expression low enough to be diagnosed with hemophilia. For a female carrier, there are four possible outcomes for each pregnancy: 1.

A girl who is not a carrier 2. A girl who is a carrier 3. A boy without hemophilia 4. A boy with hemophilia. People with hemophilia A bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures, or injuries. How often a person bleeds and the severity of those bleeds depends on how much FVIII a person produces naturally.

People with mild hemophilia A generally experience bleeding typically only after serious injury, trauma, or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience heavy menstrual bleeding, and can hemorrhage bleed extensively after childbirth.

People with moderate hemophilia A tend to have bleeding episodes after injuries. People with severe hemophilia A experience bleeding following an injury and may have frequent spontaneous bleeding episodes — bleeds that occur without obvious cause — often into their joints and muscles. Many males with severe hemophilia are diagnosed due to bleeding after circumcision.

Doctors will perform tests that evaluate how long it takes for the blood to clot to determine if someone has hemophilia. A clotting factor test, called an assay, will show the type of hemophilia and the severity, or how much clotting factor the person produces on their own. Most people who have a family history of hemophilia will ask that their baby boys be tested soon after birth to see if they have hemophilia.

If there is no family history of hemophilia, people often notice bleeding that takes longer to stop or lots of bruising. Many babies born with severe hemophilia are diagnosed if there is prolonged bleeding after circumcision. For girls, it often takes seeing worsening of symptoms for the diagnosis process to begin.

Most girls are not tested for hemophilia before puberty. Heavy periods are a symptom of a bleeding disorder in women and girls. If there is a known family history, it is important to monitor for symptoms. It is recommended that women who have a family history of hemophilia get tested before getting pregnant, to help prevent complications during childbirth. The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers HTCs that are spread throughout the country.

HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing. Find a hemophilia treatment center near you. Most treatments for hemophilia A focus on replacing the missing protein, FVIII 8 , so a person can form a clot, and so reduce or eliminate the bleeds associated with the disorder.

Treatments that work to prevent bleeding through new mechanisms have recently come to the market or are in clinical trials. People with hemophilia A have several different medication options for treatment. See all FDA-approved treatments for hemophilia A.