hemophilia C

WordNet

1. the 3rd letter of the Roman alphabet (同)c
2. (music) the keynote of the scale of C major
3. a general-purpose programing language closely associated with the UNIX operating system
4. congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son (同)haemophilia, bleeder''s disease

PrepTutorEJDIC

1. carbonの化学記号
2. 血友病(血液の凝固力が弱く出血しやすい病気)
3. cesiumの化学記号
4. cadmium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）』「2013/10/10 16:48:56」(JST)

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Haemophilia C
Classification and external resources
ICD-10	D68.1
ICD-9	286.2
OMIM	264900
DiseasesDB	29376
eMedicine	ped/964 med/3515
MeSH	D005173

Haemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the USA it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.

It is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. Furthermore, it has autosomal inheritance, since the gene for factor XI is located on chromosome 4 (close to the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding. Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Treatment is usually not necessary, except in relation to operations, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma or recombinant factor XI may be used, but only if necessary. The afflicted may often suffer nosebleeds, and females can experience heavy menstrual bleeding. Haemophilia C was first discovered in a young Ashkenazic Jewish American in the 1950s.

Symptoms

The symptoms of Haemophilia C are the same as those for other forms of haemophilia, mainly:

• Prolonged bleeding from injuries.
• Frequent or heavy nosebleeds.
• Traces of blood in the urine.
• Heavy menstrual bleeding in females.

References

UpToDate Contents

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• 1. 第ⅩＩ因子欠乏症 factor xi deficiency
• 2. 稀な（劣性遺伝性）凝固異常 rare recessively inherited coagulation disorders
• 3. 遺伝子組換え第VIIa凝固因子の治療使用 therapeutic uses of recombinant coagulation factor viia
• 4. ベル麻痺：成人における病因、臨床的特徴、および診断 bells palsy pathogenesis clinical features and diagnosis in adults
• 5. 血漿成分の臨床使用 clinical use of plasma components

English Journal

• Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

• Kim J, Song J, Lyu C, Kim Y, Oh S, Choi Y, Yoo J, Choi J, Kim H, Lee KA.SourceDepartment of Laboratory Medicine Department of Pediatrics Department of Internal Medicine Department of Neurology, Yonsei University College of Medicine, Seoul 135-720, Korea.
• Clinical genetics.Clin Genet.2012 Aug;82(2):180-186. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.
• Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee K-A. Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. The aim of this study was to investigate a mutation spectrum of F11 among Korean patients with factor XI (FXI) deficiency and t
• PMID 21668437

• Acquired factor XI deficiency in a child with membranoproliferative glomerulonephritis.

• McManus MP, Frantz C, Gailani D.SourceDivision of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.
• Pediatric blood & cancer.Pediatr Blood Cancer.2012 Jul 15;59(1):173-5. doi: 10.1002/pbc.23287. Epub 2011 Aug 17.
• We describe a 7-year-old male with membranoproliferative glomerulonephritis who presented with nephrotic syndrome and subsequently developed factor XI (fXI) deficiency. An association between these conditions has not been described previously. In this case, fXI deficiency was caused by an antibody t
• PMID 21850674

Japanese Journal

• HIV-HCV重複感染患者における肝予備能評価の重要性

• 曽山 明彦,江口 晋,高槻 光寿 [他]
• 肝臓 53(7), 403-408, 2012-07
• NAID 40019350583

• 口底粘膜下血腫を契機に診断された後天性血友病Aの1例

• 傳田 祐也,清水 武,五島 秀樹 [他]
• 日本口腔外科学会雑誌 58(5), 312-316, 2012-05
• NAID 40019334850

Related Links

• Hemophilia C: Background, Etiology, Epidemiology

Hemophilia C (deficiency of factor XI) was described first in 2 sisters and a maternal uncle of an American Jewish family. All 3 bled after dental extractions, and the sisters also bled after tonsillectomy.

• Hemophilia C « IHTC

Hemophilia C Hemophilia C (Factor XI Deficiency or Rosenthal Syndrome): A Unique Bleeding Disorder What Is Hemophilia C? While factor VIII and factor IX deficiencies are the best known and most common types of hemophilia ...

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★リンクテーブル★

リンク元	「血友病C」「先天性第XI因子欠乏症」「Rosenthal syndrome」「factor XI deficiency」「congenital factor XI deficiency」
関連記事	「C」「Cs」「Cd」「c」

「血友病C」

　　[★]

英

hemophilia C

関

第XI因子欠乏症、先天性第XI因子欠乏症、第XI因子欠損症、ローゼンタール症候群

「先天性第XI因子欠乏症」

　　[★]

英

congenital factor XI deficiency、hemophilia C

関

血友病C、先天性第XI因子欠損症

「Rosenthal syndrome」

　　[★]

ローゼンタール症候群、Rosenthal症候群

関

factor XI deficiency、hemophilia C

「factor XI deficiency」

　　[★]

第XI因子欠乏症、第XI因子欠損症

関

hemophilia C、Rosenthal syndrome

「congenital factor XI deficiency」

　　[★]

先天性第XI因子欠乏症、先天性第XI因子欠損症

関

hemophilia C

「C」

　　[★]

• 炭素 carbon
• シトシン cytosine
• システイン cysteine
• シチジン
• セルシウス度 摂氏 degrees Celsius degree C
• 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語

　 　 　 　

「Cs」

　　[★] セシウム, caesium, cesium 　

「Cd」

　　[★] カドミウム

関

cadmium

　

「c」

　　[★]

• 光速, speed of light