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Hemophilia is a hereditary disease which refers to a group of bleeding disorders which will cause a patient's blood to not clot properly. (Penn Medicine, 2023)

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There are two main forms of Hemophilia: Hemophilia A and Hemophilia B.  Type A is cause by a deficiency in factor VIII, while type B is caused by a deficiency in factor IX. (Penn Medicine, 2023)

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A process caused coagulation cascade is responsible for creating blood clots. It uses special proteins called "clotting factors" to help stop bleeding. A person who has Hemophilia will have a deficiency is one or more of these clotting factors needed for coagulation. (Penn Medicine, 2023)

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Hemophilia can occur in mild (> 5% clotting factor), moderate (1-5% clotting factor), or severe cases (< 1% clotting factor).  (Penn Medicine 2023)

Symptoms can include easily bruising, bleeding after minor injuries, and feeling pain in the muscles. (Cincinnati Children's, 2023)

For people with severe hemophilia, internal bleeding is also a great concern. Joint swelling and pain is common in patients with severe hemophilia because of internal bleeding into the joints. Surgeries or dental work can be dangerous to people with Hemophilia, because they can suffer severe bleeding. (Penn Medicine 2023)

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Hemophilia is caused by a mutation on the X chromosome which limits the formation of factors VIII or IX. Hemophilia is therefore much more common to be expressed in men, and carried by women.

Only 10% of women who have the hemophilia gene with express the illness.

30% of men with hemophilia do not have any family history of hemophilia. (Cincinnati Children's, 2023)

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What is the life expectancy of someone with Hemophilia?

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What is the life expectancy of someone with Hemophilia?

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People with Hemophilia are capable of living active, long lives. With treatment and management of symptoms, hemophilia can be managed. (Cincinnati Children's Hospital, 2023)

Hemophilia can be deadly for patients who are not aware of their condition, or for people in a situation where they are not able to receive treatment quickly enough. A small number of people with Hemophilia may die from severe bleeding. (Penn Medicine, 2023)

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Why is it important to understand Hemophilia?

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Why is it important to understand Hemophilia?

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Understanding how Hemophilia is inherited is helpful so that people can be aware of their illness as early as possible. Most severe harm is caused when a person who has hemophilia is unaware of their illness, and suffers severe bleeding.

It is also important to understand Hemophilia so that progress can be made into new technologies to limit symptoms.

It is also useful so that parents can make an informed decision when deciding to become pregnant, if one of them is a known carrier.

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Hemophilia is caused by a mutation in the genes on the X chromosome which produce clotting factor proteins. This mutation is caused by a variant in the F8 gene for Hemophilia A, or the F9 gene for Hemophilia B. These two genes are normally in charge of providing instructions on how to produce the coagulation factors VIII or IX respectively. With the mutation, a person with hemophilia will have a deficiency in these proteins. (Medline Plus, 2010)

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Hemophilia A affects 1 in 5,000 male births. Around 400 children are born with Hemophilia A every year. (CDC, 2023) Hemophilia B affects in 1 in 20,000 male births. (Medline Plus, 2010)

Because many people who have hemophilia are unaware of their diagnosis, or experience only mild symptoms, the exact number of people living with hemophilia in the US is unknown, although it is predicted to be around 33,000. (CDC, 2023)

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Most people who have hemophilia are often diagnosed at a very young age, usually between 1 and 36 months after their birth, with more severe cases being identified earlier.

Hemophilia can be diagnosed using a blood test. Many families who are aware of a family history of hemophilia will test their child as early as possible. For most children, a blood test can be administered soon after birth. (CDC, 2023)

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Patients with hemophilia are able to treat the bleeding symptoms of hemophilia by injecting clotting factor concentrates into a vein. These injections can be administered at home by the patient or their family.

People with mild cases will often receive the treatment only when they are having a bleeding episode, while people with severe cases might get injections several times a week to prevent bleeds. (CDC, 2023)

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What is a current study related to Hemophilia?

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What is a current study related to Hemophilia?

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A study taking place at the St. Jude Children's Research Hospital is attempting to find a lasting cure for the issue of hemophilia. They hope that patients will no long have to rely on the infusions to stop a bleeding episode, but will be fully cured of the illness through gene therapy.

Using vivo gene transfer to the liver using adenoids-associated viral (AVV) vectors, the research team was able to preform the therapy successfully on a human for the first time after years of successful animal testing. (Nienhuis, Nathwani, Davidoff, 2017)

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Check out this video from the Cincinnati Children's Hospital!

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Check out this video from the Cincinnati Children's Hospital!

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(Cincinnati Children's, 2023)

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Clot Control: A Story about Hemophilia | Cincinnati Children's

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Centers for Disease Control and Prevention. (2023, July 12).  Data & statistics on hemophilia. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/hemophilia/data.html

Centers for Disease Control and Prevention. (2023, July 12). Treatment of hemophilia. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/hemophilia/treatment.html

Cincinnati Children’s Hospital Medical Center. (2023, March) Hemophilia in Children. Cincinnati Childrens. https://www.cincinnatichildrens.org/health/h/hemophilia

Nienhuis, A. W., Nathwani, A. C., & Davidoff, A. M. (2017). Gene therapy for hemophilia. Gene Therapy for Hemophilia, 25(5), 1163–1167. https://doi.org/https://doi.org/10.1016/j.ymthe.2017.03.033.

Penn Medicine. (2023, February 2). Hemophilia. Pennmedicine.org. https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/hemophilia

U.S. National Library of Medicine. (2010, May 1). F8 gene: Medlineplus genetics. MedlinePlus. https://medlineplus.gov/genetics/gene/f8/