Haemophilia is an inherited bleeding disorder which is X-linked recessive and therefore occurs almost exclusively in males. There are two subtypes - haemophilia A (80%) and haemophilia B (20%).
The incidence of haemophilia A is around 1 in 5000 male births, and the incidence of haemophilia B is around 1 in 25,000-30,000 male births.
Most patients present with bleeding during the neonatal period or with bleeding / large haematoma following minor trauma as a toddler. Haemophilia A and B are difficult to delineate clinically 6.
Haemophilia is an inheritable X-linked recessive disease 6, with 70% considered familial and 30% considered sporadic 8. It occurs when there is a mutation of the F8 or F9 gene, causing haemophilia A or B respectively, on the long-arm of the X-chromosome 7.
- 80% of cases
- F8 gene mutation
- coagulation factor VIII deficiency or absence
- one-third have no family history
- a.k.a. Christmas disease
- 20% of cases
- F9 gene mutation
- coagulation factor IX deficiency or absence
- ~70% of patients have the severe form of the disease characterised by spontaneous haemorrhage or haemorrhage following minor trauma 1
Transfusion-related diseases associated with the treatment of haemophilia include:
The hallmark of the disease is haemorrhage, particularly into joints and/or soft-tissue, with three main radiological consequences:
- haemophilic arthropathy occurring in almost all individuals
- haemophilic pseudotumour occurring in ~2%
- soft tissue haematoma formation may lead to contractures 3
- serious life-threatening haemorrhage (intracranial, thoracic, abdominal)
Treatment and prognosis
Treatment depends on the type, general severity and current clinical state. Factor VIII and IX blood product concentrate and recombinant factors can be used.
Prognosis depends on the severity and on the presence or absence of transfusion-related disease. HIV is a leading cause of death. Life expectancy in those without HIV is ~62 years 2.
- ~15 times increased risk death from intracranial haemorrhage (~1/3 of all deaths)
- ~50 times increased risk death from non-intracranial haemorrhage
- 1. National Heart, Lung, and Blood Institute. Hemophilia. NHLBI Diseases and Conditions Index. Available at http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_all.html.
- 2. Darby SC, Kan SW, Spooner RJ et-al. Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV. Blood. 2007;110 (3): 815-25. doi:10.1182/blood-2006-10-050435 - Pubmed citation
- 3. Hermann G, Gilbert MS, Abdelwahab IF. Hemophilia: evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. AJR Am J Roentgenol. 1992;158 (1): 119-23. AJR Am J Roentgenol (abstract) - Pubmed citation
- 4. Ng WH, Chu WC, Shing MK et-al. Role of imaging in management of hemophilic patients. AJR Am J Roentgenol. 2005;184 (5): 1619-23. AJR Am J Roentgenol (full text) - Pubmed citation
- 5. Franchini M, Mannucci PM. Past, present and future of hemophilia: a narrative review. Orphanet J Rare Dis. 2012;7 (1): 24. doi:10.1186/1750-1172-7-24 - Free text at pubmed - Pubmed citation
- 6. Coppola A, Di Capua M, Di Minno MN et-al. Treatment of hemophilia: a review of current advances and ongoing issues. J Blood Med. 2012;1: 183-95. doi:10.2147/JBM.S6885 - Free text at pubmed - Pubmed citation
- 7. Seo JY, Jang MA, Kim HJ et-al. Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia. Blood Res. 2013;48 (3): 206-10. doi:10.5045/br.2013.48.3.206 - Free text at pubmed - Pubmed citation
- 8. Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia. 2007;13 (1): 90-2. doi:10.1111/j.1365-2516.2006.01397.x - Pubmed citation