第IX因子欠乏症、第IX因子欠損症
- 関
- Christmas disease、haemophilia B、hemophilia B
WordNet
- be a contributing factor; "make things factor into a companys profitability"
- any of the numbers (or symbols) that form a product when multiplied together
- an independent variable in statistics
- anything that contributes causally to a result; "a number of factors determined the outcome"
- consider as relevant when making a decision; "You must factor in the recent developments" (同)factor in, factor out
- resolve into factors; "a quantum computer can factor the number 15" (同)factor in, factor out
- 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"
- a concept whose truth can be proved; "scientific hypotheses are not facts"
- a piece of information about circumstances that exist or events that have occurred; "first you must collect all the facts of the case"
- 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"
- the 9th letter of the Roman alphabet (同)i
PrepTutorEJDIC
- (…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
- 〈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
- 〈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
- 『私は』私が
- 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)
[Wiki en表示]
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 |
[edit on Wikidata]
|
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.[1] In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.[2]
Contents
- 1 Treatment
- 2 Genetics
- 3 Pathophysiology
- 4 European royal families
- 5 See also
- 6 References
- 7 External links
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.[3] This lack of protein attachment to the DNA was thereby turning off the gene that produces clotting factor IX, which prevents excessive bleeding.[4]
In 2013, Merlin Crossley discovered the third and final protein causing haemophilia B Leyden.[5]
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.[6][7]
See also
- Haemophilia C
- Haemophilia in European royalty
References
- ^ Christmas' disease at Who Named It?
- ^ 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. PMC 2022306. PMID 12997790.
- ^ http://ghr.nlm.nih.gov/condition/hemophilia
- ^ Crossley, M; Brownlee, G. G. (1990). "Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B". Nature 345 (6274): 444–6. doi:10.1038/345444a0. PMID 2342576.
- ^ http://www.biotechlearn.org.nz/news_and_events/news/2013_archive/royal_disease_mystery_solved
- ^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. Retrieved 9 October 2009.
- ^ Evgeny I. Rogaev; et al. (8 October 2009). "Genotype Analysis Identifies the Cause of the "Royal Disease"". Science. Retrieved 9 October 2009.
External links
- GeneReviews/NCBI/NIH/UW entry on Hemophilia B
- Hemophilia: What is it? at CSHL Your Genes, Your Health
- hemophilia B at GPnotebook
‹ The template below is being deleted. See templates for discussion for the discussion that led to this result. ›
Diseases of red blood cells and clotting (D50–69,74, 280–287)
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|
Red
blood cells |
↑ |
|
|
↓ |
Anemia |
Nutritional |
- Micro-: Iron-deficiency anemia
- Macro-: Megaloblastic anemia
|
|
Hemolytic
(mostly normo-) |
Hereditary |
- enzymopathy: G6PD
- glycolysis
- hemoglobinopathy: Thalassemia
- Sickle-cell disease/trait
- HPFH
- membrane: Hereditary spherocytosis
- Minkowski–Chauffard syndrome
- Hereditary elliptocytosis
- Southeast Asian ovalocytosis
- Hereditary stomatocytosis
|
|
Acquired |
- Drug-induced autoimmune
- Drug-induced nonautoimmune
- Hemolytic disease of the newborn
|
|
|
Aplastic
(mostly normo-) |
- Hereditary: Fanconi anemia
- Diamond–Blackfan anemia
- Acquired: PRCA
- Sideroblastic anemia
- Myelophthisic
|
|
Blood tests |
- MCV
- Normocytic
- Microcytic
- Macrocytic
- MCHC
|
|
|
Other |
- Methemoglobinemia
- Sulfhemoglobinemia
- Reticulocytopenia
|
|
|
|
Coagulation/
coagulopathy |
↑ |
Hyper-
coagulability |
- primary: Antithrombin III deficiency
- Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden
- Prothrombin G20210A
- Sticky platelet syndrome
- acquired:Thrombocytosis
- DIC
- autoimmune
|
|
|
↓ |
Hypo-
coagulability |
Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- TTP
- Upshaw Schulman syndrome
- Heparin-induced thrombocytopenia
- May–Hegglin anomaly
|
|
Platelet function |
- adhesion
- aggregation
- Glanzmann's thrombasthenia
- platelet storage pool deficiency
- Hermansky–Pudlak syndrome
- Gray platelet syndrome
|
|
Clotting factor |
- Hemophilia
- von Willebrand disease
- Hypoprothrombinemia/II
- XIII
- Dysfibrinogenemia
- Congenital afibrinogenemia
|
|
|
|
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Sex linkage: X-linked disorders
|
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X-linked recessive
|
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Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
|
|
Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
|
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Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
|
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Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
|
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Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
|
|
Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
|
|
Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
|
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Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
|
|
Bone/tooth |
- AMELX Amelogenesis imperfecta
|
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No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
|
|
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X-linked dominant
|
|
- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
|
|
|
UpToDate Contents
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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
- 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
- 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
- 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
★リンクテーブル★
[★]
- 英
- factor IX deficiency、hemophilia B
- 関
- 血友病B、クリスマス病、第IX因子欠損症
[★]
血友病B
- 関
- Christmas disease、factor IX deficiency、hemophilia B
[★]
- 英
- factor IX deficiency
- 関
- 第IX因子欠乏症
[★]
先天性第IX因子欠乏症
[★]
- 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
[★]
[★]
- 関
- actual、actually、in fact、in practice、indeed、practically
[★]
- 関
- element、elementary、factorial、parameter