How to Read a Hemophilia B Panel for Dog

Genetic X-linked recessive bleeding disorder

Medical condition

Haemophilia B
Other names	Hemophilia B
This condition is inherited in an X-linked recessive mode.
Specialty	Haematology
Symptoms	Easy bruising[1]
Causes	Factor Nine deficiency[i]
Diagnostic method	Haemorrhage scores, Coagulation factor assays[2]
Treatment	Factor IX concentrate[1]

Haemophilia B, also spelled Hemophilia B is a claret clotting disorder causing easy bruising and haemorrhage due to an inherited mutation of the cistron for factor IX, and resulting in a deficiency of factor IX. Information technology is less common than gene VIII deficiency (haemophilia A).^[iii]

Haemophilia B was start recognized equally a distinct disease entity in 1952.^[4] Information technology is also known by the eponym Christmas disease,^[1] named after Stephen Christmas, the first patient described with haemophilia B. In addition, the outset report of its identification was published in the Christmas edition of the British Medical Periodical.^{[4] [5]}

Signs and symptoms [edit]

Symptoms include like shooting fish in a barrel bruising, urinary tract bleeding (haematuria), nosebleeds (epistaxis), and haemorrhage into joints (haemarthrosis).^[1]

Complications [edit]

Patients with bleeding disorders evidence a higher incidence of periodontal illness as well as dental caries, concerning the fear of haemorrhage which leads to a lack of oral hygiene and oral health care. The most prominent oral manifestation of a mild haemophilia B would be gingival haemorrhage during exfoliation of primary dentition, or prolonged haemorrhage after an invasive process/tooth extraction; In severe haemophilia, at that place may be spontaneous bleeding from the oral tissues (e.g. soft palate, tongue, buccal mucosa), lips and gingiva, with ecchymoses. In rare cases, haemarthrosis (bleeding into joint space) of the temporomandibular joint (TMJ) may be observed.^[six]

Patients with haemophilia will feel many episodes of oral bleeding over their lifetime. Average 29.ane bleeding events per year are serious enough to require cistron replacement in F VIII-deficient patients which ix% involved oral structures. Children with astringent haemophilia have significant lower prevalence of dental caries and lower plaque scores compared with matched, healthy controls.^[vii]

Genetics [edit]

The cistron Ix gene is located on the Ten chromosome (Xq27.i-q27.2). Information technology is an X-linked recessive trait, which explains why males are afflicted in greater numbers.^{[8] [9]}

In 1990, George Brownlee and Merlin Crossley showed that two sets of genetic mutations were preventing ii fundamental proteins from attaching to the Dna of people with a rare and unusual form of haemophilia B – haemophilia B Leyden – where sufferers feel episodes of excessive bleeding in childhood but have few bleeding issues afterwards puberty.^[nine] This lack of protein attachment to the Deoxyribonucleic acid was thereby turning off the factor that produces clotting factor Ix, which prevents excessive bleeding.^[9]

Pathophysiology [edit]

Coagulation (Set is on left)

Factor IX deficiency leads to an increased propensity for haemorrhage, which tin can exist either spontaneously or in response to mild trauma.^[10]

Factor Nine deficiency can cause interference of the coagulation cascade, thereby causing spontaneous haemorrhage when there is trauma. Factor IX when activated activates factor X which helps fibrinogen to fibrin conversion.^[10]

Gene 9 becomes active eventually in coagulation by cofactor factor VIII (specifically IXa). Platelets provide a binding site for both cofactors. This complex (in the coagulation pathway) will eventually activate factor X.^[xi]

Diagnosis [edit]

The diagnosis for haemophilia B can be done via the following tests/methods:^[2]

• Coagulation screening examination
• Haemorrhage scores
• Coagulation factor assays

Differential diagnosis [edit]

The differential diagnosis for this inherited condition is the post-obit: haemophilia A, factor XI deficiency, von Willebrand disease, fibrinogen disorders and Bernard–Soulier syndrome^[9]

Treatment [edit]

Handling is given intermittently, when there is significant bleeding. It includes intravenous infusion of gene IX and/or blood transfusions. NSAIDS should be avoided once the diagnosis is fabricated since they can exacerbate a haemorrhage episode. Any surgical procedure should be washed with concomitant tranexamic acid.^{[4] [12]}

Dental considerations [edit]

Surgical treatment, including a simple dental extraction, must be planned to minimize the take a chance of bleeding, excessive bruising, or haematoma formation. Soft vacuum-formed splints can be used to provide local protection following a dental extraction or prolonged postal service-extraction bleed.^[13]

History [edit]

Stephen Christmas (12 Feb 1947 – 20 December 1993) was the first patient described to have Christmas disease (or Haemophilia B) in 1952 by a group of British doctors. Christmas was born to a British family unit in London. He was the son of film and television set player Eric Christmas.^[14] He emigrated to Toronto, Ontario, Canada with his family, and was there at the age of 2 years that hemophilia was diagnosed at the Infirmary for Sick Children. The family returned to London in 1952 to visit their relatives, and during the trip Stephen was admitted to hospital. A sample of his blood was sent to the Oxford Haemophilia Eye in Oxford, where Rosemary Biggs and Robert Gwyn Macfarlane discovered that he was not deficient in Factor Eight, which is normally decreased in classic hemophilia, merely a different poly peptide, which received the proper noun Christmas factor in his honour (and later on Cistron Nine).^[14] Stephen was dependent on blood and plasma transfusions, and was infected with HIV in the period during which claret was not routinely screened for this virus. He became an active worker for the Canadian Hemophilia Society and campaigned for transfusion safety ever since getting infected, only developed AIDS and died from it in 1993.^[14]

In the 1950s and 1960s, with newfound technology and gradual advances in medicine, pharmaceutical scientists found a way to take the factor IX from fresh frozen plasma (FFP) and give information technology to those with haemophilia B. Though they found a manner to treat the disease, the FFP contained only a small corporeality of factor Nine, requiring large amounts of FFP to care for an actual haemorrhage episode, which resulted in the person requiring hospitalization. By the mid-1960s scientists constitute a way to get a larger corporeality of cistron Nine from FFP. By the late 1960s, pharmaceutical scientists found methods to carve up the factor IX from plasma, which allows for neatly packaged bottles of factor IX concentrates. With the rise of gene IX concentrates it became easier for people to become handling at home.^[15] Although these advances in medicine had a pregnant positive impact on the handling of haemophilia, there were many complications that came with it. Past the early on 1980s, scientists discovered that the medicines they had created were transferring claret-borne viruses, such as hepatitis, and HIV, the virus that causes AIDS. With the rise of these deadly viruses, scientists had to notice improved methods for screening the claret products they received from donors. In 1982, scientists made a breakthrough in medicine and were able to clone gene 9 gene. With this new development it decreased the adventure of the many viruses. Although the new gene was created, information technology wasn't available for haemophilia B patients until 1997.^{[ commendation needed ]}

Order [edit]

In 2009, an assay of genetic markers revealed that haemophilia B was the blood disease affecting many European royal families of Great Britain, Germany, Russian federation and Spain: and so-called "Royal Illness".^{[16] [17]}

Run into too [edit]

• Haemophilia C
• Haemophilia in European royalty

References [edit]

1. ^ ^{a b c d e} "Hemophilia B: MedlinePlus Medical Encyclopedia". medlineplus.gov . Retrieved 2016-09-21 .
2. ^ ^{a b} Konkle, Barbara A.; Josephson, Neil C.; Nakaya Fletcher, Shelley (ane Jan 1993). "Hemophilia B". GeneReviews . Retrieved seven Oct 2016. update 2014
3. ^ Kliegman, Robert (2011). Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. 1700–1. ISBN978-1-4377-0755-7.
4. ^ ^{a b c} "Haemophilia B (Factor IX Deficiency) information | Patient". Patient . Retrieved 2016-04-21 .
5. ^ Biggs R, Douglas AS, MacFarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR (1952). "Christmas disease: a condition previously mistaken for haemophilia". Br Med J. 2 (4799): 1378–82. doi:10.1136/bmj.2.4799.1378. PMC2022306. PMID 12997790.
6. ^ "Hemophilia A" (PDF). College of Dental Hygienists of Ontario. September 2, 2015.
7. ^ Glick, Michael (2015). Burket's Oral Medicine. U.s.a.: People'south Medical Publishing Firm. pp. 473, 475, 481, 482. ISBN 978-one-60795-188-9.
8. ^ "OMIM Entry - # 306900 - HEMOPHILIA B; HEMB". omim.org . Retrieved 2016-10-07 .
9. ^ ^{a b c d} "Hemophilia".
10. ^ ^{a b} "Hemophilia B: Practice Essentials, Groundwork, Pathophysiology". eMedicine. Medscape. 24 August 2016. Retrieved 7 October 2016.
11. ^ "Factor IX Deficiency: Background, Pathophysiology, Epidemiology". eMedicine. Medscape. 24 August 2016. Retrieved vii October 2016.
12. ^ Brook, Norman (2009). Diagnostic hematology. London: Springer. p. 416. ISBN9781848002951 . Retrieved 7 Oct 2016.
13. ^ Andrew Brewer, Maria Elvira Correa (May 2006). "Guildelines for Dental Treatment of Patients with Inherited Bleeding Disorders" (PDF). Treatment of Hemophilia. forty: nine – via Globe Federation of Hemophilia (WFH).
14. ^ ^{a b c} Giangrande PL (June 2003). "Half dozen characters in search of an author: the history of the nomenclature of coagulation factors". Br. J. Haematol. 121 (v): 703–12. doi:10.1046/j.1365-2141.2003.04333.x. PMID 12780784.
15. ^ Schramm, Wolfgang (November 2014). "The history of haemophilia – a curt review". Thrombosis Enquiry. 134: S4–S9. doi:10.1016/j.thromres.2013.ten.020. ISSN 1879-2472. PMID 24513149.  – via ScienceDirect (Subscription may be required or content may be available in libraries.)
16. ^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. Retrieved 9 Oct 2009.
17. ^ Evgeny I. Rogaev; et al. (8 October 2009). "Genotype Analysis Identifies the Crusade of the "Royal Affliction"". Science. 326 (5954): 817. Bibcode:2009Sci...326..817R. doi:x.1126/science.1180660. PMID 19815722. S2CID 206522975. subscription required

Further reading [edit]

• Franchini, Massimo; Frattini, Francesco; Crestani, Silvia; Sissa, Cinzia; Bonfanti, Carlo (one Jan 2013). "Treatment of hemophilia B: focus on recombinant factor IX". Biologics: Targets and Therapy. 7: 33–38. doi:10.2147/BTT.S31582. ISSN 1177-5475. PMC3575125. PMID 23430394.
• Nathwani, Amit C.; Reiss, Ulreke M.; Tuddenham, Edward K.D.; Rosales, Cecilia; Chowdary, Pratima; McIntosh, Jenny; Della Peruta, Marco; Lheriteau, Elsa; Patel, Nishal; Raj, Deepak; Riddell, Anne; Pie, Jun; Rangarajan, Savita; Bevan, David; Recht, Michael; Shen, Yu-Min; Halka, Kathleen G.; Basner-Tschakarjan, Etiena; Mingozzi, Federico; High, Katherine A.; Allay, James; Kay, Mark A.; Ng, Catherine Y.C.; Zhou, Junfang; Cancio, Maria; Morton, Christopher L.; Grey, John T.; Srivastava, Deokumar; Nienhuis, Arthur W.; Davidoff, Andrew Thousand. (20 Nov 2014). "Long-Term Condom and Efficacy of Factor Nine Cistron Therapy in Hemophilia B". New England Journal of Medicine. 371 (21): 1994–2004. doi:x.1056/NEJMoa1407309. ISSN 0028-4793. PMC4278802. PMID 25409372.

External links [edit]

shipmanevanight.blogspot.com

Source: https://en.wikipedia.org/wiki/Haemophilia_B

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