factor IX deficiency

第IX因子欠乏症、第IX因子欠損症

関

Christmas disease、haemophilia B、hemophilia B

WordNet

1. be a contributing factor; "make things factor into a companys profitability"
2. any of the numbers (or symbols) that form a product when multiplied together
3. an independent variable in statistics
4. anything that contributes causally to a result; "a number of factors determined the outcome"
5. consider as relevant when making a decision; "You must factor in the recent developments" (同)factor in, factor out
6. resolve into factors; "a quantum computer can factor the number 15" (同)factor in, factor out
7. an event known to have happened or something known to have existed; "your fears have no basis in fact"; "how much of the story is fact and how much fiction is hard to tell"
8. a concept whose truth can be proved; "scientific hypotheses are not facts"
9. a piece of information about circumstances that exist or events that have occurred; "first you must collect all the facts of the case"
10. a statement or assertion of verified information about something that is the case or has happened; "he supported his argument with an impressive array of facts"
11. the 9th letter of the Roman alphabet (同)i

PrepTutorEJDIC

1. (…の)『要因』,(…を生み出す)要素《+『in』+『名』(do『ing』)》 / 囲数,約数 / 代理人,《おもに英》仲買人 / =factorize
2. 〈C〉『事実』,実際にある(あった)事 / 〈U〉真相,真実(truth) / 《the~》(法律用語で)犯行
3. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
4. 『私は』私が
5. iodineの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/03/14 18:07:35」(JST)

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Haemophilia B
Classification and external resources
Specialty	Haematology
ICD-10	D67
ICD-9-CM	286.1
OMIM	306900
DiseasesDB	5561
MedlinePlus	000539
eMedicine	emerg/240
Patient UK	Haemophilia B
MeSH	D002836

Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the factor IX gene, leading to a deficiency of factor IX. It is the second-most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease, named after Stephen Christmas, the first patient described with this disease. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.

Treatment

Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. Factor IX has a longer half life than factor VIII (deficient in haemophilia A) and as such factor IX can be transfused less frequently.

Genetics

The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why, as in haemophilia A, usually only males are affected. One in 20,000–30,000 males are affected.

In 1990, George Brownlee and Merlin Crossley showed that two sets of genetic mutations were preventing two key proteins from attaching to the DNA of people with a rare and unusual form of haemophilia B – haemophilia B Leyden – where sufferers experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. This lack of protein attachment to the DNA was thereby turning off the gene that produces clotting factor IX, which prevents excessive bleeding.

In 2013, Merlin Crossley discovered the third and final protein causing haemophilia B Leyden.

Pathophysiology

Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.

European royal families

A study published in 2009 identified the blood disease affecting the royal families of Great Britain, Germany, Russia and Spain as haemophilia B on the basis of genetic markers.

See also

• Haemophilia C
• Haemophilia in European royalty

References

External links

• GeneReviews/NCBI/NIH/UW entry on Hemophilia B
• Hemophilia: What is it? at CSHL Your Genes, Your Health
• hemophilia B at GPnotebook

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 血友病の治療 treatment of hemophilia
• 2. 血友病の臨床症状および診断 clinical manifestations and diagnosis of hemophilia
• 3. 血友病患者における第VIIIおよび第IX因子阻害物質 factor viii and factor ix inhibitors in patients with hemophilia
• 4. 血友病の遺伝学 genetics of the hemophilias
• 5. 出血性素因を有する成人患者へのアプローチ approach to the adult patient with a bleeding diathesis

English Journal

• Advances in treatment of bleeding disorders.

• Peyvandi F1,2, Garagiola I3, Biguzzi E4.
• Journal of thrombosis and haemostasis : JTH.J Thromb Haemost.2016 Sep 2. doi: 10.1111/jth.13491. [Epub ahead of print]
• Historically, the bleeding episodes in subjects with coagulation disorders were treated by substitution therapy, initially using whole blood and fresh frozen plasma and more recently with specific factor concentrate. Nowadays, patients with hemophilia have the possibility to choose different effecti
• PMID 27590165

• Emerging drugs for the treatment of hemophilia A and B.

• Morfini M1, Zanon E2.
• Expert opinion on emerging drugs.Expert Opin Emerg Drugs.2016 Sep;21(3):301-13. doi: 10.1080/14728214.2016.1220536. Epub 2016 Aug 22.
• INTRODUCTION: Replacement therapy with clotting factor concentrates is the most appropriate and effective way to treat bleedings of Hemophilia A&B to prevent chronic arthropathy. Unfortunately, the short half-life (HL) of FVIII/IX concentrates obliges the patients to receive frequent infusions,
• PMID 27547884

• Lethal Epistaxis.

• Byard RW1,2.
• Journal of forensic sciences.J Forensic Sci.2016 Sep;61(5):1244-9. doi: 10.1111/1556-4029.13119. Epub 2016 Jun 10.
• Epistaxis or nosebleed refers to bleeding from the nostrils, nasal cavity, or nasopharynx. Occasional cases may present with torrential lethal hemorrhage. Three cases are reported to demonstrate particular features: Case 1: A 51-year-old woman with lethal epistaxis with no obvious bleeding source; C
• PMID 27282512

Japanese Journal

• 抜歯後の止血困難がきっかけで見出した軽度血友病Aの1例

• 小児歯科学雑誌 50(1), 58-62, 2012
• NAID 130005005897

• 誰が血友病B（第IX因子欠乏症）を発見したか？:―忘れられたパイオニアたちの貢献

• 日本血栓止血学会誌 23(3), 274-279, 2012
• NAID 130002077024

• 血栓症を発症した複合ヘテロ接合体性プロテインC欠乏症患者で認められた2種の遺伝子変異とそれぞれのプロテインC産生に及ぼす影響

• 日本血栓止血学会誌 = The Journal of Japanese Society on Thrombosis and Hemostasis 22(3), 87-99, 2011-06-01
• NAID 10031162927

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★リンクテーブル★

リンク元	「第IX因子欠乏症」「haemophilia B」「第IX因子欠損症」
拡張検索	「congenital factor IX deficiency」
関連記事	「deficiency」「I」「fact」「factor」

「第IX因子欠乏症」

　　[★]

英

factor IX deficiency、hemophilia B

関

血友病B、クリスマス病、第IX因子欠損症

「haemophilia B」

　　[★]

血友病B

関

Christmas disease、factor IX deficiency、hemophilia B

「第IX因子欠損症」

　　[★]

英

factor IX deficiency

関

第IX因子欠乏症

「congenital factor IX deficiency」

　　[★] 先天性第IX因子欠乏症

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「fact」

　　[★]

• n.

• 事実、現状、実際、実態

関

actual、actually、in fact、in practice、indeed、practically

　 　 　 　 　

「factor」

　　[★]

• n.

• 因子、要因、要素、ファクター

関

element、elementary、factorial、parameter