Home > Health A – Z > Hemophilia

Hemophilia

Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots.

PubMed Health Glossary
(Source: NIH - National Cancer Institute)

Hemophilia

Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally.

If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.

Overview

Hemophilia usually is inherited. "Inherited" means that the disorder is passed from parents to children through genes.

People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot.

Platelets are small blood cell fragments that form in the bone marrow - a sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels... Read more about Hemophilia

What works? Research summarized

Evidence reviews

Regular clotting factor replacement therapy to prevent joint disease in people with severe hemophilia A or B

Hemophilia A and B are X‐linked inherited bleeding disorders, in which the major clinical problem is repeated bleeding into joints. As this disorder progresses, joints become deformed and movement limited. Current therapy for treating and preventing bleeding includes plasma‐derived or recombinant clotting factor concentrates. This review includes six randomised controlled trials. Two compare the regular use of clotting factor concentrates to prevent joint bleeds with their use 'on demand'. Four compare different regimens of regular use in children and adults with hemophilia. It was clearly evident that preventative therapy, as intravenous infusion of factor concentrate repeated more times a week and started early in childhood was able to reduce joint deterioration as compared to treatment administered after bleeding occurred. This favourable effect is due to a consistent reduction in total bleeds and hemarthrosis (bleeding into joints) and leads to a significant improvement in quality of life. Preventative therapy is linked to an increased factor usage and cost of treatment. We found weaker evidence (due to lack of data) to show preventative therapy reduced joint deterioration when treatment is started after joint damage has been established. Further studies are needed to establish the best preventative regimen, i.e. for example starting time, dosage frequency, minimally effective dose.

Treatment of Hemophilia A and B and von Willebrand disease: A Systematic Review [Internet]

Treatments for acute bleeds in people with acquired hemophilia A

Acquired hemophilia A is a rare but severe bleeding disorder caused by the autoantibody directed against factor VIII (FVIII, a blood clotting protein) in patients with no previous history of a bleeding disorder. This bleeding disorder occurs more frequently in the elderly and may be associated with several other conditions, such as solid tumours, autoimmune diseases, or with drugs; it is also sometimes associated with pregnancy. However, in about half of the cases the causes are unknown. Bleeding occurs in the skin; mucous membranes; and muscles; with joint bleeds being unusual. Therapies for acquired hemophilia A include treatments to stop acute bleeds and to destroy the FVIII autoantibodies. Acute bleeds can be treated with recombinant activated FVII or activated prothrombin complex concentrate (aPCC). If these are unavailable, FVIII concentrates or 1‐desamino‐8‐D‐arginine‐vasopressin (DDAVP) fresh frozen plasma can be attempted; however, these last two options are not usually effective, and it is not known if one of these products is better than the other.

See all (56)

Summaries for consumers

Regular clotting factor replacement therapy to prevent joint disease in people with severe hemophilia A or B

Hemophilia A and B are X‐linked inherited bleeding disorders, in which the major clinical problem is repeated bleeding into joints. As this disorder progresses, joints become deformed and movement limited. Current therapy for treating and preventing bleeding includes plasma‐derived or recombinant clotting factor concentrates. This review includes six randomised controlled trials. Two compare the regular use of clotting factor concentrates to prevent joint bleeds with their use 'on demand'. Four compare different regimens of regular use in children and adults with hemophilia. It was clearly evident that preventative therapy, as intravenous infusion of factor concentrate repeated more times a week and started early in childhood was able to reduce joint deterioration as compared to treatment administered after bleeding occurred. This favourable effect is due to a consistent reduction in total bleeds and hemarthrosis (bleeding into joints) and leads to a significant improvement in quality of life. Preventative therapy is linked to an increased factor usage and cost of treatment. We found weaker evidence (due to lack of data) to show preventative therapy reduced joint deterioration when treatment is started after joint damage has been established. Further studies are needed to establish the best preventative regimen, i.e. for example starting time, dosage frequency, minimally effective dose.

Treatments for acute bleeds in people with acquired hemophilia A

Acquired hemophilia A is a rare but severe bleeding disorder caused by the autoantibody directed against factor VIII (FVIII, a blood clotting protein) in patients with no previous history of a bleeding disorder. This bleeding disorder occurs more frequently in the elderly and may be associated with several other conditions, such as solid tumours, autoimmune diseases, or with drugs; it is also sometimes associated with pregnancy. However, in about half of the cases the causes are unknown. Bleeding occurs in the skin; mucous membranes; and muscles; with joint bleeds being unusual. Therapies for acquired hemophilia A include treatments to stop acute bleeds and to destroy the FVIII autoantibodies. Acute bleeds can be treated with recombinant activated FVII or activated prothrombin complex concentrate (aPCC). If these are unavailable, FVIII concentrates or 1‐desamino‐8‐D‐arginine‐vasopressin (DDAVP) fresh frozen plasma can be attempted; however, these last two options are not usually effective, and it is not known if one of these products is better than the other.

Recombinant factor VIIa for the prevention and treatment of bleeding in patients without haemophilia

The purpose of this review was to evaluate the evidence of effectiveness and safety for the use of recombinant factor VIIa (rFVIIa). This drug has been used in patients who are either at risk of major bleeding (e.g. because of planned high‐risk surgery), or who have uncontrolled bleeding (e.g. related to trauma). There have been many articles in the literature describing the off‐license use of this drug, which often suggest benefit. However, most of the publications are based on small numbers of patients (in case reports or case series) and may be affected by bias. Randomised controlled trials provide higher‐quality research findings and allow us to assess the evidence of drug effectiveness with more certainty.

See all (9)

Terms to know

Blood Plasma
The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Platelets (Thrombocytes)
A tiny piece of cell that is made by breaking off of a large cell in the bone marrow. Platelets are found in the blood and spleen. They help form blood clots to slow or stop bleeding, and to help wounds heal. Also called thrombocyte.
Red Blood Cells (Erythrocytes)
A cell that carries oxygen to all parts of the body.
White Blood Cells (Leukocytes)
A type of immune cell. Most white blood cells are made in the bone marrow and are found in the blood and lymph tissue. White blood cells help the body fight infections and other diseases. Granulocytes, monocytes, and lymphocytes are white blood cells.

More about Hemophilia

Photo of a young adult man

Also called: Haemophilia, Hemophilia A (Factor VIII deficiency, Classic hemophilia), Hemophilia B (Factor IX deficiency, Christmas disease)

Other terms to know: See all 5
Blood Plasma, Genetic, Platelets (Thrombocytes)

Related articles:
Factor IX Injection

Keep up with systematic reviews on Hemophilia:

RSS

PubMed Health Blog...

read all...