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Haemophilia

Inherited bleeding disorder caused by clotting-factor deficiency.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Haemophilia?

Haemophilia is an inherited bleeding disorder caused by clotting-factor deficiency. Haemophilia A is due to factor VIII deficiency and haemophilia B (Christmas disease) to factor IX deficiency. Both are X-linked recessive, so the clinical disease is seen in males whereas women are usually carriers. By severity it is divided into mild, moderate and severe.

Severe haemophilia is characterised by bleeding into joints (haemarthrosis). Repeated joint bleeds gradually cause haemophilic arthropathy with permanent joint damage. Intramuscular haematomas, intracranial haemorrhage and gastrointestinal bleeding are other serious complications.

Prophylactic factor replacement is the modern standard of care: it prevents spontaneous bleeds, protects joints and markedly improves quality of life. Long-acting recombinant factors and the subcutaneous antibody emicizumab make treatment easier and improve adherence.

Symptoms

Joint bleeding: swelling, pain and limited movement (haemarthrosis)
Deep intramuscular haematoma
Prolonged bleeding from minor wounds
Excessive bleeding after dental extraction or surgery
Easy bruising
Spontaneous nose and mouth bleeds
Signs of intracranial haemorrhage: headache, vomiting, altered consciousness (urgent)

Risk Factors

Family history of haemophilia (X-linked inheritance)
Development of factor inhibitors (complicates treatment)
Contact sports and high-fall-risk activities
NSAIDs and aspirin (impair platelet function)
Poor adherence to prophylaxis
Lack of factor replacement before invasive procedures
Pregnancy and the postpartum period in carrier women

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Joint swelling and pain — early factor infusion is needed
  • Any symptom following a head injury (urgent)
  • Uncontrolled bleeding (urgent)
  • Haematology follow-up to plan prophylaxis and dosing
  • Pre-operative or pre-dental haematology consultation

Treatment Methods

01
Factor replacement: recombinant factor VIII or IX (acute or prophylactic)
02
Emicizumab (Hemlibra): subcutaneous prophylaxis in haemophilia A (with or without inhibitors)
03
DDAVP (desmopressin): in mild haemophilia A
04
Bypassing agents for inhibitor patients: activated prothrombin complex concentrate (aPCC), recombinant FVIIa
05
Physiotherapy after a joint bleed
06
Gene therapy: promising results in clinical trials

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.