Global InformationHaemophilia information
| Haemophilia | |
|---|---|
| Other names | Hemophilia |
 | |
| A drawing of clotting factor VIII | |
| Pronunciation |
|
| Specialty | Haematology |
| Symptoms | Easy and prolonged bleeding[1] |
| Usual onset | At birth[2] |
| Causes | Usually genetic[3] |
| Diagnostic method | Blood test[4] |
| Prevention | Preimplantation screening[4] |
| Treatment | Replace missing blood clotting factors[3] |
| Frequency | 1 in 7,500 males (haemophilia A), 1 in 40,000 males (haemophilia B)[2][5] |
Haemophilia, or hemophilia[6] (from Ancient Greek αἷμα (haîma) 'blood', and φιλία (philía) 'love of'),[7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.[2][3] This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.[1] Those with a mild case of the disease may have symptoms only after an accident or during surgery.[1] Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a altered level of consciousness.[1]
There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX.[2] They are typically inherited from one's parents through an X chromosome carrying a nonfunctional gene.[8] Most commonly found in men, haemophilia can affect women too, though very rarely. A woman would need to inherit two affected X chromosomes to be affected, whereas a man would only need one X chromosome affected. It is possible for a new mutation to occur during early development, or haemophilia may develop later in life due to antibodies forming against a clotting factor.[2][8] Other types include haemophilia C, which occurs due to low levels of factor XI, Von Willebrand disease, which occurs due to low levels of a substance called von Willebrand factor, and parahaemophilia, which occurs due to low levels of factor V.[9][10] Haemophilia A, B, and C prevent the intrinsic pathway from functioning properly; this clotting pathway is necessary when there is damage to the endothelium of a blood vessel.[11][12][13] Acquired haemophilia is associated with cancers, autoimmune disorders, and pregnancy.[14][15] Diagnosis is by testing the blood for its ability to clot and its levels of clotting factors.[4]
Prevention may occur by removing an egg, fertilising it, and testing the embryo before transferring it to the uterus.[4] Human embryos in research can be regarded as the technical object/process. Missing blood clotting factors are replaced to treat haemophilia.[3] This may be done on a regular basis or during bleeding episodes.[3] Replacement may take place at home or in hospital.[16] The clotting factors are made either from human blood or by recombinant methods.[16] Up to 20% of people develop antibodies to the clotting factors which makes treatment more difficult.[3] The medication desmopressin may be used in those with mild haemophilia A.[16] Studies of gene therapy are in early human trials.[17]
Haemophilia A affects about 1 in 5,000–10,000, while haemophilia B affects about 1 in 40,000 males at birth.[2][5] As haemophilia A and B are both X-linked recessive disorders, females are rarely severely affected.[8] Some females with a nonfunctional gene on one of the X chromosomes may be mildly symptomatic.[8] Haemophilia C occurs equally in both sexes and is mostly found in Ashkenazi Jews.[5] In the 1800s haemophilia B was common within the royal families of Europe.[5] The difference between haemophilia A and B was determined in 1952.[5]
- ^ a b c d "What Are the Signs and Symptoms of Hemophilia?". NHLBI. July 13, 2013. Archived from the original on 17 September 2016. Retrieved 8 September 2016.
- ^ a b c d e f "What Is Hemophilia?". NHLBI. July 13, 2013. Archived from the original on 4 October 2016. Retrieved 8 September 2016.
- ^ a b c d e f "Hemophilia Facts". CDC. August 26, 2014. Archived from the original on 27 August 2016. Retrieved 8 September 2016.
- ^ a b c d "How Is Hemophilia Diagnosed?". NHLBI. July 13, 2013. Archived from the original on 15 September 2016. Retrieved 10 September 2016.
- ^ a b c d e Wynbrandt J, Ludman MD (1 January 2009). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. p. 194. ISBN 978-1-4381-2095-9. Archived from the original on 8 January 2014. Retrieved 25 August 2013.
- ^ "What Is Hemophilia?". cdc.gov. U.S. Centers for Disease Control. 12 May 2020. Retrieved 3 April 2021.
- ^ Douglas Harper. "Online Etymology Dictionary". Archived from the original on 6 March 2008. Retrieved 10 October 2007.
- ^ a b c d "What Causes Hemophilia?". NHLBI. July 13, 2013. Archived from the original on 8 September 2016. Retrieved 10 September 2016.
- ^ Franchini M, Mannucci PM (October 2011). "Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice". British Journal of Clinical Pharmacology. 72 (4): 553–62. doi:10.1111/j.1365-2125.2010.03899.x. PMC 3195733. PMID 21204915.
- ^ Thalji N, Camire RM (September 2013). "Parahemophilia: new insights into factor v deficiency". Seminars in Thrombosis and Hemostasis. 39 (6): 607–12. doi:10.1055/s-0033-1349224. PMID 23893775. S2CID 21053684.
- ^ Camire RM (2012-01-01). "Bioengineered factor Xa as a potential new strategy for hemophilia therapy". Expert Review of Hematology. 5 (2): 121–123. doi:10.1586/ehm.12.13. ISSN 1747-4086. PMID 22475278. S2CID 7065701.
- ^ Al-Fadhil N, Pathare A, Ganesh A (2001-10-01). "Traumatic Hyphema and Factor XI Deficiency (Hemophilia C)". Archives of Ophthalmology. 119 (10): 1546–1547. ISSN 0003-9950. PMID 11594962.
- ^ Chaudhry R, Usama SM, Babiker HM (2022), "Physiology, Coagulation Pathways", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29489185, retrieved 2022-11-13
- ^ Franchini M, Mannucci PM (December 2013). "Acquired haemophilia A: a 2013 update". Thrombosis and Haemostasis. 110 (6): 1114–20. CiteSeerX 10.1.1.684.7962. doi:10.1160/TH13-05-0363. PMID 24008306. S2CID 2174637.
- ^ Mulliez SM, Vantilborgh A, Devreese KM (June 2014). "Acquired hemophilia: a case report and review of the literature". International Journal of Laboratory Hematology. 36 (3): 398–407. doi:10.1111/ijlh.12210. PMID 24750687. S2CID 205194015.
- ^ a b c "How Is Hemophilia Treated?". NHLBI. July 13, 2013. Archived from the original on 17 September 2016. Retrieved 10 September 2016.
- ^ Peyvandi F, Garagiola I, Young G (9 July 2016). "The past and future of haemophilia: diagnosis, treatments, and its complications". Lancet. 388 (10040): 187–97. doi:10.1016/s0140-6736(15)01123-x. PMID 26897598. S2CID 21945676.