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Oxford University Hospitals NHS Foundation Trust
Clinical Haematology

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Condition specific information

We diagnose, manage and treat various inherited and acquired bleeding disorders.

Haemophilia

Von Willebrands Disease

Rare clotting factor deficiencies

Rare clotting factor deficiencies are a group of inherited bleeding disorders caused by a problem with one or several clotting factors.

Clotting factors are proteins in the blood that control bleeding. Many different clotting factors work together in a series of chemical reactions to stop bleeding. This is called the clotting process.

Problems with factor VIII and factor IX are known as haemophilia A and B, respectively. Rare clotting factor deficiencies are bleeding disorders in which one of the other clotting factors (i.e. factors I, II, V, V + VIII, VII, X, XI, or XIII) is missing or not working properly. Less is known about these disorders because they are diagnosed so rarely.

Rare clotting factor deficiencies - www.wfh.org

Platelet disorders

Platelets are small cells that circulate in the blood. They are involved in the formation of blood clots and the repair of damaged blood vessels.

When a blood vessel is injured, platelets stick to the damaged area and spread along the surface to stop the bleeding (this process is called adhesion). At the same time, chemical signals are released from small sacks inside the platelets called granules (this process is called secretion). These chemicals attract other platelets to the site of injury and make them clump together to form what is called a platelet plug (this process is called aggregation).

Sometimes the platelet plug is enough to stop the bleeding. However if the wound is large, other proteins called clotting factors are recruited to the site of injury. These clotting factors work together on the surface of the platelets to form and strengthen the blood clot.

What are platelet function disorders?

Platelet function disorders are conditions in which platelets don’t work the way they should, resulting in a tendency to bleed or bruise. Since the platelet plug does not form properly, bleeding can continue for longer than normal.

Since platelets have many roles in blood clotting, platelet function disorders can lead to bleeding disorders of various intensities.

Carriers and women or girls with low factor VIII and factor IX levels

A carrier of haemophilia is a female who has an abnormal X chromosome carrying the haemophilia gene. One of her two X chromosomes has a mutation of the factor VIII or factor IX gene, resulting in normal or decreased levels of clotting factor VIII or IX, respectively

Many carriers of haemophilia also experience symptoms of the disorder. Some women live with their symptoms for years without being diagnosed or even suspecting they have a bleeding disorder.

Acquired Haemophilia

Acquired Hemophilia - www.rarebleedingdisorders.com