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Haemophilia

From Wikipedia
hemophilia
umbrella term, rare disease, class of disease
Subclass ofinherited blood coagulation disease, coagulation factor deficiency, rare hemorrhagic disorder due to a constitutional coagulation factors defect Edit
Health specialtyhematology Edit
Genetic associationF8, F9 Edit

Haemophilia (British English), anaa hemophilia (American English)[1] (from Ancient Greek αἷμα (haîma) 'blood' den φιλία (philía) 'love of),[2] be a mostly inherited genetic disorder wey dey impair de body ein ability to make blood clots, a process dem need to stop bleeding.[3][4] Dis dey result in people bleeding for a longer time after an injury, easy bruising, den an increased risk of bleeding insyd joints anaa de brain.[5] Those plus a mild case of de disease fi get symptoms only after an accident anaa during surgery.[5] Bleeding into a joint fi result in permanent damage while bleeding insyd de brain fi result in long term headaches, seizures, anaa an altered level of consciousness.[5]

Der be two main types of haemophilia: haemophilia A, wich dey occur secof low amounts of clotting factor VIII, den haemophilia B, wich dey occur secof low levels of clotting factor IX.[3] Dem be typically inherited from one ein parents thru an X chromosome wey dey carry a nonfunctional gene.[6] Most commonly dem find insyd men, haemophilia fi affect women too, though very rarely. A woman go need to inherit two affected X chromosomes to be affected, wereas a man go hia one X chromosome per affected. E be possible for a new mutation to occur during early development, anaa haemophilia fi develop later in life secof antibodies dey form against a clotting factor.[3][6]

Oda types dey include haemophilia C, wich dey occur secof low levels of factor XI, Von Willebrand disease, wich dey occur secof low levels of a substance dem call von Willebrand factor, den parahaemophilia, wich dey occur secof low levels of factor V.[7][8] Haemophilia A, B, den C dey prevent de intrinsic pathway from functioning properly; dis clotting pathway be necessary wen der be damage to de endothelium of a blood vessel.[9][10][11] Acquired haemophilia be associated plus cancers, autoimmune disorders, den pregnancy.[12][13] Diagnosis be by testing de blood for ein ability to clot den ein levels of clotting factors.[14]

Prevention fi occur by removing an egg, wey dey fertilise am, den testing de embryo before transferring am go de uterus.[14] Human embryos insyd research fi be regarded as de technical object/process. Missing blood clotting factors be replaced to treat haemophilia.[4] Dem fi do dis on a regular basis anaa during bleeding episodes.[4] Replacement fi take place at home anaa insyd hospital.[15] Dem make de clotting factors either from human blood anaa by recombinant methods.[15] Up to 20% of people dey develop antibodies to de clotting factors wich dey make treatment more difficult.[4] De medication desmopressin fi be used insyd those plus mild haemophilia A.[15] Gene therapy treatment be insyd clinical trials as of 2022, plus sam approaches den products receive conditional approval.[16]

Haemophilia A dey affect about 1 insyd 5,000–10,000, while haemophilia B dey affect about 1 insyd 40,000 males at birth.[3][17] As haemophilia A den B both be X-linked recessive disorders, females be rarely severely affected.[6] Sam females plus a nonfunctional gene on one of de X chromosomes fi be mildly symptomatic.[6] Haemophilia C dey occur equally insyd both sexes wey e mostly be found insyd Ashkenazi Jews.[17] Insyd de 1800s haemophilia B be common within de royal families of Europe.[17] De difference between haemophilia A den B be determined insyd 1952.[17]

References

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  1. ↑ "What Is Hemophilia?". cdc.gov. U.S. Centers for Disease Control. 12 May 2020. Retrieved 3 April 2021.
  2. ↑ Douglas Harper. "Online Etymology Dictionary". Archived from the original on 6 March 2008. Retrieved 10 October 2007.
  3. 1 2 3 4 "What Is Hemophilia?". NHLBI. 13 July 2013. Archived from the original on 4 October 2016. Retrieved 8 September 2016.
  4. 1 2 3 4 "Hemophilia Facts". CDC. 26 August 2014. Archived from the original on 27 August 2016. Retrieved 8 September 2016.
  5. 1 2 3 "What Are the Signs and Symptoms of Hemophilia?". NHLBI. 13 July 2013. Archived from the original on 17 September 2016. Retrieved 8 September 2016.
  6. 1 2 3 4 "What Causes Hemophilia?". NHLBI. 13 July 2013. Archived from the original on 8 September 2016. Retrieved 10 September 2016.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ Camire, Rodney M (1 January 2012). "Bioengineered factor Xa as a potential new strategy for hemophilia therapy". Expert Review of Hematology. 5 (2): 121–3. doi:10.1586/ehm.12.13. ISSN 1747-4086. PMID 22475278. S2CID 7065701.
  10. ↑ Al-Fadhil, Nawal; Pathare, Anil; Ganesh, Anuradha (1 October 2001). "Traumatic Hyphema and Factor XI Deficiency (Hemophilia C)". Archives of Ophthalmology. 119 (10): 1546–7. doi:10.1001/archopht.119.10.1546. ISSN 0003-9950. PMID 11594962.
  11. ↑ Chaudhry, Raheel; Usama, Syed Muhammad; Babiker, Hani M. (2022), "Physiology, Coagulation Pathways", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29489185, retrieved 13 November 2022
  12. ↑ 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.
  13. ↑ 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.
  14. 1 2 "How Is Hemophilia Diagnosed?". NHLBI. 13 July 2013. Archived from the original on 15 September 2016. Retrieved 10 September 2016.
  15. 1 2 3 "How Is Hemophilia Treated?". NHLBI. 13 July 2013. Archived from the original on 17 September 2016. Retrieved 10 September 2016.
  16. ↑ Nathwani, Amit C. (9 December 2022). "Gene therapy for hemophilia". Hematology (1). ASH Publications: 569–578. doi:10.1182/hematology.2022000388. PMC 9821304. PMID 36485127.
  17. 1 2 3 4 Wynbrandt, James; Ludman, Mark D. (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.
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