Hemophilia

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Clotting Factor

Family Tree

DNA Test

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

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.

Hemophilia type A and B

https://www.hemophilia.org/Bleeding-Disorders/History-of-Bleeding-Disorders

https://www.healthdirect.gov.au/haemophilia

Hemophilia

Statistics and Facts

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

https://www.hemophilia.org/About-Us/Fast-Facts#:~:text=Hemophilia%20A%20occurs%20in%201,at%20more%20than%20400%2C000%20people.

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

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

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

https://medbroadcast.com/condition/getcondition/hemophilia

Causes

Different Types of Hemophilia

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.

Symptoms

Sudden weakness in the arms or legs

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

Abnormally heavy bleeding that occurs during menstruation or following giving birth

Greater bleeding and prolonged bleeding after an injury or surgery

Internal bleeding for no reason located in joints and muscles

Easy bruising at a young age

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.

https://www.cdc.gov/ncbddd/hemophilia/facts.html#:~:text=Hemophilia%20is%20usually%20an%20inherited,can%20help%20to%20stop%20bleeding.

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.

https://school.wakehealth.edu/Research/Institutes-and-Centers/Wake-Forest-Institute-for-Regenerative-Medicine/Research/Cell-and-Gene-Therapy-Research/Researching-a-Treatment-for-Hemophilia#:~:text=People%20with%20hemophilia%20A%2C%20the,high%20levels%20of%20factor%20VIII.

Diagnosis

https://www.ucsfhealth.org/conditions/hemophilia/diagnosis#:~:text=Hemophilia%20is%20diagnosed%20with%20blood,be%20missing%20the%20same%20one.

Support

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."

https://haemophilia.org.uk/public-inquiry-blog/welcome-to-our-new-live-webinar-events/

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.

https://www.hemophilia.ca/

History

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.

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.

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.

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.”

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.

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.

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.

https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

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.