Types Of Haemophilia: 5 Available Diagnostic Tests For This Rare Genetic Disorder
Types Of Haemophilia: 5 Available Diagnostic Tests For This Rare Genetic Disorder
Diagnosis and classification help guide the treatment and management of haemophilia, typically including clotting factor replacement therapy, prophylactic treatment, and other supportive care as necessary.
Written By: Tavishi Dogra | Updated : April 25, 2024 4:28 PM IST
Causes of Haemophilia: Haemophilia can lead to spontaneous and prolonged bleeding. Work with platelets to help blood form clots and control bleeding.
Inherited Haemophilia
Females have two X chromosomes (XX). If both parents are affected by the mutation, there is a 50% chance that the son or daughter will have haemophilia. Conversely, if only the mother is a carrier of haemophilia, there is a 50% chance that the son will have haemophilia XY or haemophilia XX.
Cause: Caused by a lack or deficiency in clotting factor VIII.
Inheritance: X-linked recessive inheritance typically affects males and is inherited from carrier mothers.
Symptoms: Frequent bleeding episodes, particularly into the joints and muscles, easy bruising, prolonged bleeding from cuts or injuries, and possibly spontaneous bleeding.
Hemophilia B (Christmas Disease)
Cause: Caused by a lack or deficiency in clotting factor IX.
Frequency: It is the second most common form of haemophilia, accounting for about 20% of all cases.
Symptoms: Similar to haemophilia A, including bleeding into the joints and muscles, prolonged bleeding from cuts or injuries, and possibly spontaneous bleeding.
Hemophilia C (Factor XI deficiency)
Cause: Caused by a lack or deficiency in clotting factor XI.
Frequency: It is a rare form of haemophilia and generally presents with milder symptoms.
Symptoms: Milder than haemophilia A and B; bleeding is often limited to surgical or dental procedures.
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Diagnostic Tests
Screening Tests
Complete Blood Count (CBC): Measures haemoglobin, red blood cells, white blood cells, and platelets. Although usually typical in haemophilia patients, CBC can show low haemoglobin and red blood cells if heavy bleeding occurs.
Activated Partial Thromboplastin Time (APTT): This test measures blood clotting time and precisely measures individual clotting factors VIII, IX, XI and XII levels. Hemophilia A or B typically results in prolonged clotting time in the APTT test.
Prothrombin Time (PT) measures clotting time and primarily assesses factors I, II, V, VII, and X. It is typically expected in haemophilia A and B, as these types mainly affect other clotting factors.
Fibrinogen Test: Measures clotting factor I (fibrinogen) levels.
Clotting Factor Tests (Factor Assays) These tests precisely measure individual clotting factors VIII and IX levels to diagnose the specific type and severity of haemophilia. This helps determine the type of haemophilia and guides treatment options.
Hemophilia Severity Classification
The level of clotting factors in the blood determines Hemophilia severity:
Mild Hemophilia: Clotting factor levels between >5% and <40%.
Depending on the exact level, women and girls with a clotting factor level <40% are classified as having mild, moderate, or severe haemophilia.
Symptomatic carrier: A woman or girl with a clotting factor level 40% and bleeding symptoms.
Asymptomatic carrier: A woman or girl with a clotting factor level 40% but no bleeding symptoms.
Diagnosis and classification help guide the treatment and management of haemophilia, typically including clotting factor replacement therapy, prophylactic treatment, and other supportive care as necessary.
[This article has been verified by Dr Smita Hiras Sudke, Regional Chief of the lab(Pune & ROM), Metropolis Healthcare]
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