Hemophilia is a rare bleeding disorder in which blood doesn’t clot normally. A person with hemophilia is missing clotting factor proteins needed to clot the blood, which leads to spontaneous bleeding or bruising. The disorder is usually inherited, but it can also be acquired.
This article discusses the hemophilia, its causes, types, and common symptoms. It also discusses what you can expect during diagnosis and treatment.
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Hemophila Types and Symptoms
There are two common types of hemophilia: type A (factor 8 deficiency or “classic” hemophilia) and type B (factor 9 deficiency, once widely called “Christmas disease” after the first person with the disorder described in the medical literature).Depending on the severity and type of a patient’s hemophilia, bleeding may occur spontaneously (without injury) or after surgery or trauma.
According to the Centers for Disease Control and Prevention symptoms of both types of hemophilia include:
Who Is at Risk?
Men born into families with a history of hemophilia are at risk. To understand the inheritance of hemophilia, we need to talk a little about genetics. Typically, biological males inherit an X chromosome from their mother and a Y chromosome from their father, while biological females inherit an X chromosome from each parent.
Diagnosis
Your physician will likely start with laboratory tests to assess the entire coagulation system. These are called the prothrombin time (PT) and partial thromboplastin time (PTT).
The PT test, which measures the clotting ability of clotting factors 1, 2, 5, 7, and 10, is usually normal in people with hemophilia A or B.
The PTT test measures the clotting ability of factors 8, 9, 11, and 12. Unless there is a clear family history, usually all four factors are tested at the same time. In the case of hepatitis A or B, clotting takes longer than usual, and there will be reduced activity of factor 8 (in hemophilia A) or factor 8 (in hemophilia B).
Types
Treatment
Hemophilia is often treated with clotting factor concentrates. These factor concentrates are infused via a vein (IV).Hemophilia can be treatedin two different methods: on demand only (when bleeding episodes occur) or prophylaxis (receiving factor once, twice, or three times per week to prevent bleeding episodes).
Although factor concentrates are the preferred treatment, this treatment is not available in all countries. Hemophilia can also be treated with blood products. Factor 8 deficiency can be treated with cryoprecipitate (a concentrated form of plasma). Fresh frozen plasma can be used to treat factor 8 and factor 9 deficiency.
In mildly affected patients, a medication called desmopressin acetate (DDAVP) can be administered via a vein or nasal spray. It stimulates the body to release stores of factor 8 to assist in the cessation of bleeding.
9 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders.Hemophilia B.National Library of Medicine: MedlinePlus.Hemophilia.Centers for Disease Control and Prevention.Hemophilia.Hemophilia Federation of America.Hemophilia A.Centers for Disease Control and Prevention.Diagnosing hemophilia.Wheeler AP, Gailani D.Why factor XI deficiency is a clinical concern.Expert Rev Hematol. 2016;9(7):629-637. doi:10.1080/17474086.2016.1191944Centers for Disease Control and Prevention.Treatment of hemophilia.National Library of Medicine: DailyMed.Hemgenix—etranacogene dezaparvovec kit[drug label].Food and Drug Administration.FDA approves first gene therapy for adults with severe hemophilia A.
9 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders.Hemophilia B.National Library of Medicine: MedlinePlus.Hemophilia.Centers for Disease Control and Prevention.Hemophilia.Hemophilia Federation of America.Hemophilia A.Centers for Disease Control and Prevention.Diagnosing hemophilia.Wheeler AP, Gailani D.Why factor XI deficiency is a clinical concern.Expert Rev Hematol. 2016;9(7):629-637. doi:10.1080/17474086.2016.1191944Centers for Disease Control and Prevention.Treatment of hemophilia.National Library of Medicine: DailyMed.Hemgenix—etranacogene dezaparvovec kit[drug label].Food and Drug Administration.FDA approves first gene therapy for adults with severe hemophilia A.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Organization for Rare Disorders.Hemophilia B.National Library of Medicine: MedlinePlus.Hemophilia.Centers for Disease Control and Prevention.Hemophilia.Hemophilia Federation of America.Hemophilia A.Centers for Disease Control and Prevention.Diagnosing hemophilia.Wheeler AP, Gailani D.Why factor XI deficiency is a clinical concern.Expert Rev Hematol. 2016;9(7):629-637. doi:10.1080/17474086.2016.1191944Centers for Disease Control and Prevention.Treatment of hemophilia.National Library of Medicine: DailyMed.Hemgenix—etranacogene dezaparvovec kit[drug label].Food and Drug Administration.FDA approves first gene therapy for adults with severe hemophilia A.
National Organization for Rare Disorders.Hemophilia B.
National Library of Medicine: MedlinePlus.Hemophilia.
Centers for Disease Control and Prevention.Hemophilia.
Hemophilia Federation of America.Hemophilia A.
Centers for Disease Control and Prevention.Diagnosing hemophilia.
Wheeler AP, Gailani D.Why factor XI deficiency is a clinical concern.Expert Rev Hematol. 2016;9(7):629-637. doi:10.1080/17474086.2016.1191944
Centers for Disease Control and Prevention.Treatment of hemophilia.
National Library of Medicine: DailyMed.Hemgenix—etranacogene dezaparvovec kit[drug label].
Food and Drug Administration.FDA approves first gene therapy for adults with severe hemophilia A.
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