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Haemophilia is an inherited bleeding disorder caused by deficiency of clotting factor VIII or IX.
Quick Answer
Haemophilia is an inherited bleeding disorder caused by deficiency of clotting factor VIII or IX. Dr. Sachita Baniya (NMC 20158, 8+ years of clinical experience in haematology and haemato-oncology) evaluates haemophilia at Kathmandu Neurology Clinic & Cognitive Center, 117 Lal Durbar Marg, Kathmandu, Bagmati Province 44600, Nepal — evidence-based, medically reviewed.
Haemophilia A and B are X-linked disorders causing prolonged bleeding, especially into joints and muscles. Severity depends on factor levels. Management includes factor replacement, prophylaxis and coordinated planning for surgery and injury.
Diagnosis uses activated partial thromboplastin time, factor VIII or IX assays and genetic testing. Severity is classified by factor level.
Factor replacement treats and prevents bleeding. Prophylaxis in severe disease reduces joint damage. Desmopressin is used in mild haemophilia A. Antifibrinolytics help with mucosal bleeding. Inhibitor surveillance is important.
Management is individualized and discussed with benefits, limitations, and follow-up.
Genetic counselling and carrier testing help families. Avoid unnecessary procedures and trauma; wear appropriate protection during sports.
Red flags — seek urgent care
Yes, it is X-linked recessive. Sons of carrier mothers have a 50% chance of being affected, and daughters have a 50% chance of being carriers.
It is rare but possible, especially with skewed X-inactivation or inherited factor deficiency. Carrier women may also have bleeding symptoms.
Inhibitors are antibodies against replaced factor that reduce its effectiveness. They require specialist management and alternative therapies.
Gene therapy is emerging for selected patients. Standard care uses factor replacement and prophylaxis.
Regular prophylaxis is recommended for severe haemophilia to prevent joint damage and spontaneous bleeding.
Non-contact sports are generally encouraged with appropriate precautions. Contact sports require individual discussion and prophylaxis planning.
Plan with the haematology team in advance. Factor replacement or antifibrinolytics may be needed.
Regular factor levels, joint assessment, inhibitor surveillance and vaccination review.
Specialist assessment for abnormal blood counts, anaemia, low platelets, bleeding, clotting and suspected blood disorders.
Diagnosis and management of haemophilia, von Willebrand disease and inherited bleeding.
Red cell and platelet transfusion support for haematological disease and treatment.
Immune thrombocytopenia is an acquired immune-mediated fall in platelets causing bruising and bleeding.
Thalassaemia is an inherited haemoglobin disorder caused by reduced or absent globin chain production.
Von Willebrand disease is the most common inherited bleeding disorder, caused by deficient or abnormal von Willebrand factor.
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Reviewed by Dr. Jitendra Prasad Yadav • Last reviewed: 2026-11-10
Content is educational and aligns with standard medical references; individual evaluation may vary. External links provide context and do not imply endorsement.
Doctor — medically reviewed
Dr. Sachita Baniya
Consultant Haemato-Oncologist & Clinical Hematologist • MBBS, FCPS (Clinical Haematology) • NMC 20158
This condition guide was medically reviewed by Dr. Sachita Baniya.
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