Hemophilia

Treatment

The treatment for hemophilia to help stop bleeding or to help clot blood involves injection or infusion which is called clotting factor replacement therapy.

The current treatment for severe cases is regular injections of clotting factor. However, a majority of patients in the world with the disorder don’t have access to this treatment, which costs $400,000 per year.

History

In 1803, John Conrad Otto, a Philadelphia physician, was the first to publish an article recognizing that a hemorrhagic bleeding disorder primarily affected men, and ran in certain families.

In 1813, John Hay published a paper in the New England Journal of Medicine proposing that affected men could pass the trait for a bleeding disorder to their unaffected daughters.

Then in 1828, Friedrich Hopff, a student at the University of Zurich, and his professor Dr. Schonlein, are credited with coining the term “haemorrhaphilia” for the condition, later shorted to “haemophilia.”

Hemophilia is sometimes referred to as “the royal disease,” because it affected the royal families of England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria of England, who ruled from 1837-1901, is believed to have been the carrier of hemophilia B, or factor IX deficiency.

In 1901, the US Surgeon General’s Catalogue listed lime, inhaled oxygen and the use of thyroid gland or bone marrow, or hydrogen peroxide or gelatin, as treatments for hemophilia.

In 1937 Harvard physicians Arthur Patek and FHL Taylor published a paper describing anti-hemophilia globulin found in plasma. It could decrease clotting time in patients with hemophilia.

Support

The Canadian Hemophilia Society
- Their goal is to educate as well as to find
relief and treatment to people who have and
are suffering from hemophilia.

The Hemophilia Society
"We are the only UK-wide charity for all those affected by a genetic bleeding disorder; a community of individuals and families, healthcare professionals and supporters."

Diagnosis

Current Research Being Done On
Hemophilia

Currently, the scientists are working to find better ways of administering cells and to understand a paradox of the treatment.

What Is It?

Hemophilia is an inherited genetic disorder that causes exponential bleeding when even a minor injury occurs, due to the fact that a person with hemophilia does not have clotting factors to help stop bleeding.

Clotting factors are proteins that are sent to an area of injury and clot the blood so no further bleeding occurs.

Symptoms

Easy bruising at a young age

Internal bleeding for no reason located in joints and muscles

Greater bleeding and prolonged bleeding after an injury or surgery

Abnormally heavy bleeding that occurs during menstruation or following giving birth

Bad headaches, neck pain, or stiffness, lasting a long time
changes in vision

Sudden weakness in the arms or legs

Causes

Hemophilia is a genetic mutation caused mainly by inheriting it and passing it down through families, but ⅓ of cases appear in families that have no history of it.

Different Types of Hemophilia

Statistics and Facts

In Canada, hemophilia A affects about 1 in 10,000 people.

Hemophilia B is less common, affecting about 1 in 50,000 people.

Hemophilia affects people of all races, colours, and ethnic backgrounds.

Hemophilia A occurs in 1 in 5,000 live male births. Hemophilia A is about four times as common as hemophilia B.

The worldwide incidence of hemophilia is not well known, but estimated at more than 400,000 people. Approximately 75% of people with hemophilia around the world still receive inadequate treatment or have no access to treatment.

Hemophilia type A and B

Type A
It is the most common type. It is caused by lack of clotting factor 8, which results from a mutation in gene F8.

Type B
It is caused by lack of clotting factor 9, which results from a mutation in gene F9.

DNA Test

Family Tree

Clotting Factor