Q: What is the treatment gap?

75% of people with haemophilia globally — predominantly in LMICs — have inadequate or no access to treatment. In high-income countries, comprehensive prophylactic factor replacement prevents joint bleeds and disability; patients live near-normal lives. In LMICs, patients die from bleeds (intracranial haemorrhage, surgical haemorrhage) or are disabled by joint disease that is entirely preventable with available treatment.

Q: What is prophylaxis?

Prophylaxis — regular preventive infusions of clotting factor concentrate (before bleeds occur) — is the standard of care in high-income countries. Primary prophylaxis (started in toddlers before joint damage) prevents haemophilic arthropathy almost completely. For haemophilia A: factor VIII concentrate IV 3x/week, or emicizumab subcutaneously once weekly to monthly (much more convenient). For haemophilia B: factor IX concentrate 2x/week, or N9-GP (extended half-life) weekly.

Q: What is gene therapy for haemophilia?

Gene therapy delivers a functional copy of the factor VIII or IX gene into liver cells (hepatocytes) using an adeno-associated virus (AAV) vector — enabling the liver to produce its own clotting factor, potentially for life. Approved therapies: valoctocogene roxaparvovec (Roctavian — haemophilia A; $2.9M), etranacogene dezaparvovec (Hemgenix — haemophilia B; $3.5M). Clinical trial data shows sustained factor levels reducing bleed rates to near-zero in many patients. A functional cure for some — but at costs inaccessible to most.

Q: What is emicizumab?

Emicizumab (Hemlibra) is a bispecific monoclonal antibody that mimics factor VIII function by bridging activated factor IX and factor X — enabling the coagulation cascade to proceed without factor VIII. Given subcutaneously weekly, fortnightly or monthly — far more convenient than IV factor infusions. Approved for haemophilia A (with or without inhibitors) — transforming management, particularly in countries where IV administration was difficult.

Q: What are inhibitors?

Inhibitors are antibodies that develop against infused factor VIII or IX — neutralising their therapeutic effect, making treatment extremely difficult. Inhibitors develop in approximately 25-30% of severe haemophilia A patients and 2-5% of haemophilia B patients. They are treated with: immune tolerance induction (ITI — high-dose factor VIII daily for months to years, inducing immune tolerance — 70% success); bypassing agents (recombinant FVIIa, aPCC); or emicizumab (which works independently of factor VIII, therefore unaffected by inhibitors).

Q: What is von Willebrand disease?

Von Willebrand disease (VWD) is the most common inherited bleeding disorder — affecting approximately 1% of the population, though most cases are mild and undiagnosed. It is caused by deficiency or dysfunction of von Willebrand factor (VWF), a protein that mediates platelet adhesion to injured vessels and carries factor VIII. Symptoms: heavy menstrual bleeding (most common presentation in women — VWD is often missed as the cause of HMB); nose bleeds; prolonged bleeding after dental procedures.

Q: How is haemophilia in Georgia managed?

Georgia has a national haemophilia programme with factor concentrate provision through the national health system. PHIG monitors haemophilia care quality through hospital accreditation. Access to newer therapies (emicizumab, extended half-life factors) is expanding. The Georgian Medical Journal has covered haemophilia management as a national health priority.

Q: How does GMJ News cover haemophilia?

GMJ News covers WFH Global Survey data, gene therapy approvals, emicizumab evidence, inhibitor management and the global treatment access crisis. Haemophilia and bleeding disorders are directly relevant to PHIG's rare disease and healthcare quality priorities.

Question 1

What is haemophilia?

Accepted Answer

Haemophilia is a hereditary bleeding disorder caused by deficiency of clotting factor VIII (haemophilia A — most common) or factor IX (haemophilia B). It is X-linked recessive, affecting almost exclusively males (females are usually carriers with normal bleeding). Affected individuals experience prolonged or spontaneous bleeding — particularly into joints and muscles — because their blood cannot form stable clots. Without treatment, severe haemophilia leads to progressive joint disability.

Question 2

How severe is haemophilia?

Accepted Answer

Severity depends on residual factor activity: severe haemophilia (<1% factor activity) — spontaneous joint and muscle bleeds from early childhood, requiring prophylactic treatment; moderate haemophilia (1-5%) — bleeds with minor trauma, occasional spontaneous bleeds; mild haemophilia (5-40%) — bleeds only with significant trauma or surgery. Approximately 50% of haemophilia A patients have severe disease.

Question 3

What is the treatment gap?

Accepted Answer

75% of people with haemophilia globally — predominantly in LMICs — have inadequate or no access to treatment. In high-income countries, comprehensive prophylactic factor replacement prevents joint bleeds and disability; patients live near-normal lives. In LMICs, patients die from bleeds (intracranial haemorrhage, surgical haemorrhage) or are disabled by joint disease that is entirely preventable with available treatment.

Question 4

What is prophylaxis?

Accepted Answer

Prophylaxis — regular preventive infusions of clotting factor concentrate (before bleeds occur) — is the standard of care in high-income countries. Primary prophylaxis (started in toddlers before joint damage) prevents haemophilic arthropathy almost completely. For haemophilia A: factor VIII concentrate IV 3x/week, or emicizumab subcutaneously once weekly to monthly (much more convenient). For haemophilia B: factor IX concentrate 2x/week, or N9-GP (extended half-life) weekly.

Question 5

What is gene therapy for haemophilia?

Accepted Answer

Gene therapy delivers a functional copy of the factor VIII or IX gene into liver cells (hepatocytes) using an adeno-associated virus (AAV) vector — enabling the liver to produce its own clotting factor, potentially for life. Approved therapies: valoctocogene roxaparvovec (Roctavian — haemophilia A; $2.9M), etranacogene dezaparvovec (Hemgenix — haemophilia B; $3.5M). Clinical trial data shows sustained factor levels reducing bleed rates to near-zero in many patients. A functional cure for some — but at costs inaccessible to most.

Question 6

What is emicizumab?

Accepted Answer

Emicizumab (Hemlibra) is a bispecific monoclonal antibody that mimics factor VIII function by bridging activated factor IX and factor X — enabling the coagulation cascade to proceed without factor VIII. Given subcutaneously weekly, fortnightly or monthly — far more convenient than IV factor infusions. Approved for haemophilia A (with or without inhibitors) — transforming management, particularly in countries where IV administration was difficult.

Question 7

What are inhibitors?

Accepted Answer

Inhibitors are antibodies that develop against infused factor VIII or IX — neutralising their therapeutic effect, making treatment extremely difficult. Inhibitors develop in approximately 25-30% of severe haemophilia A patients and 2-5% of haemophilia B patients. They are treated with: immune tolerance induction (ITI — high-dose factor VIII daily for months to years, inducing immune tolerance — 70% success); bypassing agents (recombinant FVIIa, aPCC); or emicizumab (which works independently of factor VIII, therefore unaffected by inhibitors).

Question 8

What is von Willebrand disease?

Accepted Answer

Von Willebrand disease (VWD) is the most common inherited bleeding disorder — affecting approximately 1% of the population, though most cases are mild and undiagnosed. It is caused by deficiency or dysfunction of von Willebrand factor (VWF), a protein that mediates platelet adhesion to injured vessels and carries factor VIII. Symptoms: heavy menstrual bleeding (most common presentation in women — VWD is often missed as the cause of HMB); nose bleeds; prolonged bleeding after dental procedures.

Question 9

How is haemophilia in Georgia managed?

Accepted Answer

Georgia has a national haemophilia programme with factor concentrate provision through the national health system. PHIG monitors haemophilia care quality through hospital accreditation. Access to newer therapies (emicizumab, extended half-life factors) is expanding. The Georgian Medical Journal has covered haemophilia management as a national health priority.

Question 10

How does GMJ News cover haemophilia?

Accepted Answer

GMJ News covers WFH Global Survey data, gene therapy approvals, emicizumab evidence, inhibitor management and the global treatment access crisis. Haemophilia and bleeding disorders are directly relevant to PHIG's rare disease and healthcare quality priorities.

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