Last Reviewed : 12/28/2020

Haemophilia (also spelled hemophilia) is a group of hereditary genetic disorders that impairs the body's ability to control blood clotting, which is used to stop bleeding when a blood vessel is broken. Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births. Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.

Like other recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Because females have two X chromosomes and haemophilia is rare, the chance of a female having two defective copies of the gene is very remote, so females are almost exclusively asymptomatic carriers of the disorder. Female carriers can inherit the defective gene from either their mother or father, or it may be a new mutation. Although it is not impossible for a female to have haemophilia, it is unusual: daughters which are the product of both a male with haemophilia A or B and a female carrier will possess a 50% chance of having haemophilia, while the non-sex-linked haemophilia C due to coagulant factor XI deficiency, which can affect either sex, is more common in Jews of Ashkenazi (east European) descent but rare in other population groups.

People with haemophilia have lower clotting factor level of blood plasma or impaired activity of the coagulation factors needed for a normal clotting process. Thus when a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot. A haemophiliac does not bleed more intensely than a person without it, but can bleed for a much longer time. In severe haemophiliacs even a minor injury can result in blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating. The word is from the Greek haima a?µa 'blood' and philia f???a 'love'.


We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.


Basic information:

http://www.nhs.uk/conditions/haemophilia/pages/introduction.aspx nhs uk haemophilia

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/haemophilia better health haemophilia

http://www.nnhf.org/about_us/about_haemophilia.html novo nordisk haemophilia foundation haemophilia


Advanced information:

http://www.medicalnewstoday.com/info/hemophilia medical news today all about hemophilia / haemophilia

http://patient.info/doctor/haemophilia-a-factor-viii-deficiency patient haemophilia a (factor viii deficiency)

http://emedicine.medscape.com/article/779322-overview medscape hemophilia a

https://www1.wfh.org/publication/files/pdf-1472.pdf guidelines for the management of hemophilia by world federation of hemophilia

http://www.rch.org.au/clinicalguide/guideline_index/haemophilia/ the royal childrens hospital melbourne haemophilia guidelines

http://radiopaedia.org/articles/haemophilic-arthropathy radiopedia haemophilia

http://www.bcshguidelines.com/documents/neonatalguidelinefinalnov2010.pdf guideline on the management of haemophilia in the fetus and neonate..a united kingdom haemophilia centre doctors’ organisation guideline approved by the british committee for standards in haematology.

http://www.health.gov.au/internet/publications/publishing.nsf/content/phd-hepc-manual-toc~phd-hepc-manual-ch2~phd-hepc-manual-ch2-7 australian governament department of health co-infection in people with haemophilia

http://www.rcht.nhs.uk/documentslibrary/royalcornwallhospitalstrust/clinical/haematology/managementofprimaryhaemostaticdisorders.pdfclinical guideline for the management of primary haemostatic disorders (haemophilia & related conditions)

http://www.stago.com/haemostasis/tests-clinical-applications/haemophilia-b/ stago haemophilia b

http://www.stago.com/haemostasis/tests-clinical-applications/haemophilia-a/ stago haemophilia a



http://ijponline.biomedcentral.com/articles/10.1186/1824-7288-35-40 a rare case of acute lymphoblastic leukaemia with hemophilia a by rahul sinha et al., italian journal of pediatrics200935:40 doi: 10.1186/1824-7288-35-40

http://mirt.tsnmjournals.org/article_5985/the-efficacy-of-magnetic-resonance-imaging-and-x-ray-in-the-evaluation-of-response-to-radiosynovectomy-in-patients-with-hemophilic-arthropathy the efficacy of magnetic resonance imaging and x-ray in the evaluation of response to radiosynovectomy in patients with hemophilic arthropathy by tamer özülker et al., (mirt 2011;20:38-44)

http://www.hindawi.com/journals/crihem/2014/484563/ case reports in hematology
volume 2014 (2014), article id 484563, 4 pages http://dx.doi.org/10.1155/2014/484563 case report:idiopathic acquired hemophilia a with undetectable factor viii inhibitor by nicholas b. Abt et al.,

http://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-4-231 acquired hemophilia as the cause of life-threatening hemorrhage in a 94-year-old man: a case report by theodoros kelesidis et al., journal of medical case reports20104:231 doi: 10.1186/1752-1947-4-231

http://www.jemds.com/data_pdf/1_ram%20sunder--ruks--arv.pdf ram sunder sharma, arun kumar arya. “clinical profile of hemophilia patients: a cross sectional study at a tertiary care center in india.” Journal of evolution of medical and dental sciences 2015; vol. 4, issue 98, december 07; page: 16350-16352, doi: 10.14260/jemds/2015/2416

http://www.romj.org/2012-0103 haemophilia laboratory diagnosis training and care in rural communities in sudan by fathelrahman m. Hassan, maria m. Satti russian open medical journal 2012. Volume 1 - issue 1

http://www.hindawi.com/journals/bmri/2013/901975/ biomed research international
volume 2013 (2013), article id 901975, 7 pages http://dx.doi.org/10.1155/2013/901975 clinical study:risk factors for high-titer inhibitor development in children with hemophilia a: results of a cohort study by susan halimeh et al.,

http://www.hindawi.com/journals/apm/2012/201271/ advances in preventive medicine
volume 2012 (2012), article id 201271, 8 pages http://dx.doi.org/10.1155/2012/201271 review article:prevention of the musculoskeletal complications of hemophilia by e. C. Rodriguez-merchan

http://www.hindawi.com/journals/grp/2015/620217/ gastroenterology research and practice
volume 2015 (2015), article id 620217, 7 pages http://dx.doi.org/10.1155/2015/620217 clinical study:recurrent thrombotic events after discontinuation of vitamin k antagonist treatment for splanchnic vein thrombosis: a multicenter retrospective cohort study by nicoletta riva

https://www.ijmhr.org/ijpr_articles_vol2_4/ijpr-2014-647.pdf effect of treadmill training on quadriceps and hamstring muscles strength in children with knee heamarthrosis by amira mahmoud abd-elmonem et al., int j physiother res 2014, vol 2(4):591-98. Issn 2321-1822

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4856382&blobtype=pdf shortened lifespan and lethal hemorrhage in a hemophilia a mouse model by janice m. Staber et al., . Plos one 11(5): e0154857. Doi:10.1371/journal.pone.0154857

Ghosh k. Hemophilia and hemostasis: a case-based approach to management. Indian j med res [serial online] 2013 [cited 2016 jun 13];138:436-7. Available from: http://www.ijmr.org.in/text.asp?2013/138/3/436/119391

http://icmr.nic.in/ijmr/2014/july/0705.pdf epidemiology & social costs of haemophilia in india by anita kar, supriya phadnis, sumedha dharmarajan & juhi nakade indian j med res 140, july 2014, pp 19-31


Other helpful resources(support groups):

http://www.haemophilia.org.uk/ the hemophilia society

https://www.haemophilia.org.au/bleedingdisorders/haemophilia-2 haemophilia foundation australia

http://www.haemophilia.org.nz/ hemophilia foundation new zealand

https://www.haemophilia.ie/content.php?id=1 irish hemophilia society

http://www.haemophilia.org.za/ south african hemophilia foundation

http://www.hfwa.org/ hemophilia foundation western australia


Related videos:

https://www.youtube.com/watch?v=mc_2e2xa5u8 haemophilia and genetics

https://www.youtube.com/watch?v=pvhbmubk8ci hemophilia the royal disease

https://www.youtube.com/watch?v=0yac6b06jgi what is hemophilia, haemophilia treatment

https://www.youtube.com/watch?v=oqjh36satxq haemophilia : definition, types, pathogenesis, clinical features, diagnosis, treatment ( hd )

https://www.youtube.com/watch?v=lqjhtefwsla breakthrough in haemophilia treatment

https://www.youtube.com/watch?v=3ptfqeexnxc haemophilia - a noble cause


Presentations/quiz/newspaper articles:

https://www.newscientist.com/article/dn28619-first-trial-of-gene-editing-treatment-for-haemophilia/ news scientist first trial of gene-editing treatment for haemophilia by anna nowogrodzki

http://www.bbc.com/news/health-16107411 bbc news haemophilia gene therapy shows early success by james gallagherhealth reporter, bbc news

http://www.dailymail.co.uk/health/article-7852/jab-cure-haemophilia.html daily mail jab may cure haemophilia

http://www.abc.net.au/news/2016-06-15/north-queensland-blood-donor-donates-an-impressive-302-times/7512218 abc.net north queensland blood donor marks impressive 302 milestone during national blood donor week

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