WordNet
- the 2nd letter of the Roman alphabet (同)b
- the blood group whose red cells carry the B antigen (同)type_B, group B
- congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son (同)haemophilia, bleeder''s disease
PrepTutorEJDIC
- 血友病(血液の凝固力が弱く出血しやすい病気)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/16 16:02:42」(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]
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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
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Diseases of red blood cells and clotting (D50–69,74, 280–287)
|
|
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
|
|
|
|
|
|
Index of cells from bone marrow
|
|
| Description |
- Immune system
- Cells
- Physiology
- coagulation
- proteins
- granule contents
- colony-stimulating
- heme and porphyrin
|
|
| Disease |
- Red blood cell
- Monocyte and granulocyte
- Neoplasms and cancer
- Histiocytosis
- Symptoms and signs
- Blood tests
|
|
| Treatment |
- Transfusion
- Drugs
- thrombosis
- bleeding
- other
|
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|
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Sex linkage: X-linked disorders
|
|
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X-linked recessive
|
|
| 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
|
|
| 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
|
|
| 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
|
|
| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
|
|
| Bone/tooth |
- AMELX Amelogenesis imperfecta
|
|
| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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|
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X-linked dominant
|
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- 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
- Revascularization strategies and in-hospital management in acute coronary syndromes complicated by hemophilia A or hemophilia B.
- Reilley MJ1, Blair A, Matthai WH, Vega R, Buckley M, Gimotty PA, Fogarty PF.
- Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2017 Dec;28(8):650-657. doi: 10.1097/MBC.0000000000000655.
- PMID 28763308
- Nonacog Beta Pegol: A Review in Haemophilia B.
- Syed YY1.
- Drugs.Drugs.2017 Dec;77(18):2003-2012. doi: 10.1007/s40265-017-0836-8.
- PMID 29124682
- "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.
- von der Lippe C1, Frich JC2, Harris A3, Solbrække KN2.
- Journal of genetic counseling.J Genet Couns.2017 Dec;26(6):1324-1332. doi: 10.1007/s10897-017-0112-9. Epub 2017 May 26.
- PMID 28547664
Japanese Journal
- 汪 巍,末吉 健二,青木 謙二,坂本 眞人,古谷 博史
- 情報処理学会研究報告. MPS, 数理モデル化と問題解決研究報告 2013-MPS-92(31), 1-2, 2013-02-20
- 血友病 B は第 IX 因子遺伝子の突然変異によって引き起こされる.我々は,第 IX 因子遺伝子の突然変異のデータベースを用いて研究を行った.本研究では,タンパク質の立体構造を使用し,重回帰分析を用いて突然変異の効果を解析した.この結果,立体構造と第 IX 因子活性の関連が示唆された.
- NAID 110009550179
- 生物種間の配列類似性を利用した血友病第IX因子遺伝子の解析
- 末吉 健二,汪 巍,青木 謙二,坂本 眞人,古谷 博史
- 情報処理学会研究報告. MPS, 数理モデル化と問題解決研究報告 2013-MPS-92(30), 1-2, 2013-02-20
- 血友病 B は第 IX 因子遺伝子の突然変異によって引き起こされる.我々は,第 IX 因子遺伝子の突然変異のデータベースを用いて研究を行った.本研究では,生物種間のアミノ酸の配列類似性を使用し,重回帰分析とサポートベクターマシンを用いて突然変異の解析を行った.この結果,アミノ酸の配列類似性と第 IX 因子活性の関連が示唆された.
- NAID 110009550178
Related Links
- Here you'll learn more about the symptoms, diagnosis and treatment of hemophilia B, or factor IX (FIX) deficiency. ... Hemophilia B, also called factor IX (FIX) deficiency or Christmas disease, is a genetic disorder caused by missing ...
- Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to ... Hemophilia B is caused by an inherited X-linked recessive trait, with ...
Related Pictures
★リンクテーブル★
[★]
- 英
- hemorrhagic disease
出血性疾患 (first aid step1 2006 p.301)
[★]
- 英
- X-linked recessive disorder
- 関
- 伴性劣性遺伝病、X連鎖遺伝病
X-linked recessive disorders (first aid step p.109)
- Female carriers of X-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell.
[★]
- 英
- factor IX deficiency、hemophilia B
- 関
- 血友病B、クリスマス病、第IX因子欠損症
[★]
第IX因子欠乏症、第IX因子欠損症
- 関
- Christmas disease、haemophilia B、hemophilia B
[★]
- 英
- hemophilia B
- 関
- 血友病、血友病A、第IX因子
- first aid step1 2006 p.109,300,301
[★]
- Mg2+存在下でC3, B, Dが反応してC3bBbとなり、これがC3転換酵素(C3bBb)あるいはC5転換酵素(C3bBb3b)を形成する。これらはP(properdin)と結合して活性化し、それぞれC3、C5を活性化する