Rare and Ultra-Rare Bleeding Disorders
While haemophilia and von Willebrand disease are the most widely recognised inherited bleeding disorders, several rare and ultra-rare bleeding conditions can also affect the body’s ability to stop bleeding. These disorders occur when one of the proteins or cells involved in blood clotting does not function correctly. In many cases, this means a specific clotting factor is missing or defective, or the platelets that help form blood clots do not work properly. Although rare, these conditions can cause significant bleeding symptoms and require specialised care from healthcare professionals experienced in managing bleeding disorders. Patients are often treated at Haemophilia Treatment Centres (HTCs) where multidisciplinary teams provide diagnosis, treatment, and long-term management.
Rare and Ultra-Rare Bleeding Conditions
Most rare bleeding disorders are inherited genetic conditions caused by mutations in the genes responsible for producing clotting proteins or platelet function.
In many cases:
- The condition follows an autosomal recessive inheritance pattern
- Both parents carry the gene, even if they do not have symptoms
- A child must inherit the altered gene from both parents to develop the disorder
Some bleeding disorders may also develop later in life due to autoimmune conditions, medications, liver disease, or other medical factors, but inherited disorders are the most common.
Symptoms vary depending on the specific disorder and the severity of the deficiency. Common signs include:
Frequent nosebleeds
Easy bruising
Prolonged bleeding after injury or surgery
Heavy menstrual bleeding
Gum bleeding
Bleeding into muscles or joints
Excessive bleeding after dental procedures
Bleeding in newborns
Severe cases may involve internal bleeding, which requires urgent medical attention.
Diagnosis usually involves specialised testing, including:
Medical and family history evaluation
Blood clotting tests
Specific clotting factor assays
Platelet function testing
Genetic testing when necessary
Because these disorders are rare, diagnosis is often made at specialised laboratories associated with haemophilia treatment centres.
Treatment depends on the specific disorder and the severity of bleeding symptoms. Management may include:
Clotting factor replacement therapy
Platelet transfusions
Fresh frozen plasma (FFP)
Cryoprecipitate
Antifibrinolytic medications
Preventative treatment before surgery or dental procedures
With proper treatment and monitoring, many people living with rare bleeding disorders can lead active and healthy lives.
Types of Rare Bleeding Disorders
Below are several rare bleeding disorders caused by deficiencies in clotting factors or platelet function.
Fibrinogen helps form the final clot that stops bleeding.
Forms include:
Afibrinogenemia – absence of fibrinogen
Hypofibrinogenemia – low levels of fibrinogen
Dysfibrinogenemia – fibrinogen that does not function properly
Symptoms may include severe bleeding, umbilical cord bleeding in newborns, and bleeding after injury or surgery.
Treatment may include fibrinogen concentrates, cryoprecipitate, or plasma therapy.
Factor II (prothrombin) plays a key role in generating thrombin, an enzyme necessary for clot formation.
Symptoms may include:
Easy bruising
Nosebleeds
Bleeding after surgery or injury
Heavy menstrual bleeding
Treatment often includes prothrombin complex concentrates or plasma therapy.
Also known as Owren’s disease, this condition causes reduced clotting ability.
Symptoms include:
Frequent nosebleeds
Gum bleeding
Easy bruising
Prolonged bleeding after injury
Treatment generally involves fresh frozen plasma to replace the missing factor.
Factor VII deficiency is the most common of the rare clotting factor deficiencies, though still uncommon.
Symptoms may include:
Nosebleeds
Heavy menstrual bleeding
Joint bleeding
Muscle bleeding
Treatment options may include recombinant Factor VIIa or plasma therapy, especially before surgery.
Factor X plays an essential role in the clotting cascade, helping generate thrombin.
Symptoms may include:
Easy bruising
Nosebleeds
Joint bleeding
Bleeding after trauma or surgery
Treatment options include Factor X concentrate or plasma therapy.
Factor XI deficiency is sometimes called Hemophilia C.
Unlike haemophilia A and B, spontaneous bleeding is less common. Bleeding usually occurs after injury or surgery.
Symptoms may include:
Excessive bleeding after surgery
Nosebleeds
Heavy menstrual bleeding
Treatment may include antifibrinolytic medicines or plasma therapy.
Factor XIII stabilizes blood clots after they form.
Symptoms can include:
Delayed bleeding after injury
Poor wound healing
Bleeding in newborns
Recurrent miscarriage in women
Severe cases may lead to life-threatening bleeding in the brain.
Treatment usually involves regular Factor XIII replacement therapy.
Glanzmann Thrombasthenia is a rare inherited platelet disorder in which platelets cannot properly stick together to form a clot.
Unlike clotting factor deficiencies, this condition affects platelet function rather than clotting proteins.
Symptoms may include:
Frequent nosebleeds
Gum bleeding
Easy bruising
Heavy menstrual bleeding
Prolonged bleeding after injury or surgery
Treatment may involve:
Platelet transfusions
Antifibrinolytic medications
Recombinant factor VIIa in certain situations
Care is usually coordinated through specialised haemophilia treatment centres.
Living with a Rare Bleeding Disorder
With proper medical care and support, people with rare bleeding disorders can lead healthy and active lives.
- Regular visits with a haematologist
- Monitoring bleeding symptoms
- Planning treatment before surgeries or dental procedures
- Education about recognising bleeding complications
- Access to patient support organisations
The South African Haemophilia Foundation (SAHF) supports patients and families by providing education, advocacy, and resources to improve access to care.