About haemophilia and haemoglobinopathies
Haemophilia affects blood clotting. Sickle cell disease alters red blood cell shape. Thalassaemia reduces healthy haemoglobin. All are lifelong and require early care and treatment.
About haemophilia and haemoglobinopathies
Over 10 million people worldwide live with haemophilia or haemoglobinopathies, mainly sickle cell disease and thalassaemia. Each year, more than 300,000 babies are born with severe blood disorders, with the highest numbers in sub-Saharan Africa, South and Southeast Asia, the Middle East, the Mediterranean, and among migrant populations in Europe and the Americas.
Haemophilia is a hereditary bleeding disorder caused by reduced or absent clotting factors (most commonly factor VIII or IX). Bleeding typically affects joints and muscles and can be triggered by trauma, surgery or occur spontaneously in severe cases. Haemophilia A (factor VIII) and haemophilia B (factor IX) are classified as severe, moderate or mild depending on clotting-factor activity. Early diagnosis and access to treatment reduce pain, joint damage and disability.
Haemoglobinopathies are inherited disorders of haemoglobin that affect red blood cell form and function. Sickle cell disease causes abnormally shaped red cells that can block blood flow and cause pain crises and organ damage. Thalassaemia reduces production of haemoglobin, leading to anaemia of varying severity. Both conditions are lifelong, benefit from early screening and specialist care, and may require transfusions, medication and supportive therapies.
Haemophilia
Haemophilia is an inherited bleeding disorder caused by reduced or absent clotting factors, most commonly factor VIII (A) or IX (B). It leads to prolonged bleeding, often into joints and muscles, and can cause chronic pain, recurrent joint damage and mobility limitations in severe cases. Severity (severe, moderate, mild) guides care. Diagnosis uses clotting-factor tests and genetics; management includes factor replacement, prophylaxis where available, rehabilitation and other supportive therapies.
For more information, see the haemophilia fact sheetSickle cell disease
Sickle cell disease is an inherited haemoglobin disorder where red blood cells contain abnormal haemoglobin S, causing cells to become rigid and sickle-shaped. This results in painful vaso‑occlusive crises, chronic anaemia, infections and organ damage, with severity varying by genotype (e.g., HbSS, HbSC, HbS/β-thalassaemia). Diagnosis includes newborn screening and haemoglobin testing; care focuses on pain management, infection prevention, transfusions and disease-modifying drugs like hydroxyurea.
For more information, see the sickle cell disease fact sheetThalassaemia
Thalassaemia is an inherited disorder that reduces haemoglobin production, causing chronic anaemia that ranges from asymptomatic carrier states to severe, transfusion-dependent disease. Alpha and beta forms differ by affected genes; severity depends on how many genes are mutated and the specific mutations. Diagnosis uses blood counts, haemoglobin electrophoresis and genetic testing. Management ranges from monitoring and supplements to regular transfusions, iron chelation and, in select cases, stem cell transplant.
For more information, see the thalassaemia fact sheet