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Facts

 

Mission

 

The Florida Hemophilia Association, Inc (FHA) is a Not-for-Profit organization that is dedicated to enhancing the quality of life in the bleeding disorders community by creating programs and services that provide education, emotional support and advocacy. We are contributing toward research to ultimately find a cure.

 

Hemophilia Facts

Blood contains at least ten proteins (called clotting factors) that must work together in order for blood to clot properly. These clotting proteins are numbered I through XIII. When a person’s blood is not able to clot, the person has a bleeding disorder. The best known bleeding disorder is hemophilia.

Hemophilia caused by a defect in or a lack of clotting factor VIII is called hemophilia A (sometimes known as classic hemophilia). Hemophilia caused by a defect in or a lack of clotting factor IX is called hemophilia B (sometimes known as Christmas disease, named for the first person who was known to have this disorder).

People cannot “catch” hemophilia; they are born with it. Hemophilia is a hereditary disease — in other words, it “runs in families” (is inherited).

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Clotting factor defects are genetic. Genes determine everything physical about a person such as eye color, hair color, and function of clotting factors. Before a baby is born, it receives half of its genetic information from its mother (through her egg cell) and half from its father (through his sperm cell). If the mother or father has the hemophilia gene, it may be passed to the baby through the egg or sperm.

In many cases it can be difficult to tell if a woman carries the gene for hemophilia, but if her father has or had hemophilia, she is called an “obligate carrier”, and she carries the hemophilia gene. Boys born to an obligate carrier have a 50-50 chance of having hemophilia, and girls have a 50-50 chance of being carriers (these girls might some day have a baby boy with hemophilia). The odds are the same for each pregnancy.

 

If a man with hemophilia fathers a child, his sons will not have hemophilia, but his daughters will be all carriers. If a man with hemophilia fathers a child and his female partner is a carrier, the baby could have hemophilia, even if it is a girl. This is extremely rare.

Some children born with hemophilia have no family history of the disease because genetic changes can occur for no reason. Doctors believe that 30% of all children born with hemophilia have no family history of the disease ( the disease occurs spontaneously). But they can pass the hemophilia gene on to their children.

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If a woman has a brother, son, or other family members with hemophilia, she may or may not be a carrier. In this case, before getting pregnant, she may choose to get tested to see if she is a hemophilia carrier. Tests look at the woman’s clotting factor level and DNA (genetic make-up). They are generally accurate but not foolproof. A woman who considers having these tests should discuss them with her doctor and with a genetic counselor.

A pregnant woman concerned about passing hemophilia on to her baby can have the fetus tested to see if it has hemophilia. These tests (amniocentesis and chorionic villus sampling) are invasive — in other words, tubes or needles enter the woman’s body to collect cells from the fetus.Chorionic villus sampling is done during the first trimester of pregnancy, and amniocentesis is done during the second. A woman who considers having these tests should discuss theirs risks and benefits with her doctor and with a genetic counselor.

 

Bleeding Disorders in Women

The most common bleeding disorder in women and girls is von Willebrand disease, an inherited disorder that affects up to 1-2% of the population. Von Willebrand disease is caused by a defect in or a deficiency of a blood clotting protein called von Willebrand factor.

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Von Willebrand disease is usually diagnosed by doctors who specialize in blood diseases; these doctors are called hematologists. The hematologists will conduct special blood tests and ask questions about bleeding and the bleeding problems of other family members.

Symptoms of von Willebrand disease include heavy menstrual periods, frequent or prolonged nosebleeds, easy bruising, bleeding gums, and prolonged bleeding following dental work, surgery or childbirth. Although these symptoms are caused by a problem with the blood, it is frequently misdiagnosed as a gynecologic problem by doctors who are not hematologists.

Von Willebrand disease may also cause bleeding into the skin from mucous membranes that line the nose and the gastrointestinal and genitourinary tracts. The gums are also made of mucous membranes.

There is no cure for von Willebrand disease, but it can be treated. Minor bleeds may not need treatment, but for more serious bleeding problems (such as very heavy menstrual periods) effective treatments are available, including oral birth control pills.

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Von Willebrand disease can also be treated with a synthetic hormone called desmopressin acetate. This prescription drug comes in an injectable form and a nasal spray. A hematologist should decide which form of the drug to use. This drug is also sometimes used to control enuresis (bed wetting), but the forms used to treat von Willebrand disease are ten times stronger than that used for bed wetting.

In some people with von Willebrand disease, desmopressin acetate does not work. These people can discuss with their hematologist using a special kind of blood product called clotting factor concentrate that contains von Willebrand factor.

Women and girls can also be born with other bleeding disorders. These conditions include factor deficiencies such as factor VIII and factor IX deficiency (hemophilia) and other clotting factor deficiencies (for example, factor I, II, V, VII, X, XI, XIII deficiencies). All of these conditions are rare, but they can be treated by a hematologist.

Women and girls who are hemophilia “carriers” may have many of these symptoms of hemophilia, including joint problems. Women and girls who carry the hemophilia gene and have bleeding problems can be treated by hematologists.

The National Hemophilia Foundation has many educational and informational resources for women and girls with bleeding disorders. For more information, visit their Victory for Women with Blood Disorders.

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