7 Notorious Bleeding Disorders and Their Laboratory Investigations

Bleeding disorders are conditions in which a person experiences excessive bleeding due to a defect in the body’s coagulation processes. This problem is profound in situations such as in trauma, surgery or menstrual cycles in women. It was discovered long ago and can be identified at different instances throughout history, with notable progress in its management.

Bleeding disorders can result when the clotting factors produced or the platelets are in short supply or are ineffective. Some of the disorders include:

  • Hemophilia
  • Von Willebrand disease (VWD)
  • Platelet function defects
  • Disseminated intravascular coagulation
  • Idiopathic Thrombocytopenic Purpura
  • Glanzmann Disease
  • Other Clotting factor deficiencies


This is an inheritable bleeding disorder that results from low levels of factor VIII and factor IX in the blood leading to longer clotting time. It is caused by a mutation of a gene located on the X chromosome. Most of the time, bleeding is detected in the joints, in the brain leading to paralysis or seizures and profusely in case of injuries.

Hemophilia is categorized into two forms namely classic hemophilia (hemophilia A) and Christmas Disease (Hemophilia B). The former is caused by lack or low levels of factor VIII while the former is caused by low levels or lack of the Christmas factor (Factor IX).

Von Willebrand Disease

This is a genetic disease caused by a lack of or a defective clotting protein, the Von Willebrand factor. This clotting protein is important in that it binds to factor VIII and platelets in blood vessel walls thus resulting in the formation of a clotting plug. It is carried on chromosome 12 and affects both males and females equally.

Some of the common manifestations of this disorder include frequent nose bleeds, easy bruising and excessive bleeding during and after invasive procedures such as surgery.

Von Willebrand’s disease is classified into type 1, type 2, acquired VWD and type 3 depending on the quantitative or qualitative defects and the cause.

Platelet function defects

Platelet function defects have two etiologies namely acquired and inherited. The inherited defects of platelet function are a heterogeneous group of disorders that can result in bleeding symptoms ranging from mild bruising to severe hemorrhage. The defects can further be classified according to the clot formation process which is the initiation, extension and aggregation, and particular structures or functional deficiencies.

Disseminated Intravascular Coagulation

This is a condition in which small blood clots develop in the bloodstream thus blocking the small blood vessels over time. Disseminated intravascular coagulation can result in depletion of platelets thus resulting in a bleeding disorder.

The condition can result from a range of factors such as bites from a poisonous snake, an infection, surgery, injuries such as shock and burns, and certain cancers.

Idiopathic Thrombocytopenic Purpura

ITP can be defined as a series of thrombocytopenia without an apparent underlying clinical cause. It can result in severe and acute bleeding when it occurs. some of the suspected causes include increased splenic sequestration decreased production by the bone marrow or even destruction of platelets by the immune system.

Glanzman’s Disease

This is a rare coagulopathy in which the surface of platelets contains defective or low levels of glycoprotein IIb/ IIIa which are fibrinogen receptors. this, therefore, results in zero fibrinogen binding hence no platelet bridging and prolonged formation of a blood clot.

Other factor deficiencies

Deficiency in the other clotting factors can result in bleeding problems, for instance, the inherited afibrinogenemia which is as a result of a deficiency in factor 1, prothrombin (factor II) deficiency and labile factor deficiency (factor V) leading to parahemophilia.

Laboratory Diagnosis

The bleeding disorders can be detected and extent measures in the laboratory through procedures such as:

  • Complete blood count
  • Bleeding time test
  • Platelet aggregation test

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