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Hemophilia B leyden

MedGen UID:
431585
•Concept ID:
CN043454
•
Disease or Syndrome
Synonyms: F9 deficiency, Leyden type; Factor IX deficiency, Leyden type; hemophilia B leyden; Hemophilia B Leyden
 
Monarch Initiative: MONDO:0850054
Orphanet: ORPHA617930

Professional guidelines

PubMed

Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM
Hum Genet 1993 Apr;91(3):241-4. doi: 10.1007/BF00218264. PMID: 8478007

Recent clinical studies

Etiology

First case report of hemophilia B Leyden in Japan.
Yamashita A, Nagae C, Mori M, Ashikaga T, Kojima T, Taki M
Int J Hematol 2017 Jul;106(1):135-137. Epub 2017 Feb 7 doi: 10.1007/s12185-017-2194-4. PMID: 28168417
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
J Thromb Haemost 2015 Jul;13(7):1184-95. Epub 2015 May 18 doi: 10.1111/jth.12958. PMID: 25851415Free PMC Article
An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein.
Savinkova L, Drachkova I, Arshinova T, Ponomarenko P, Ponomarenko M, Kolchanov N
PLoS One 2013;8(2):e54626. Epub 2013 Feb 12 doi: 10.1371/journal.pone.0054626. PMID: 23424617Free PMC Article
Rabbit polyclonal antibodies against the calcium-dependent conformation of factor IX and their application in solid phase immunoradiometric assays.
Poort SR, van der Linden IK, Krommenhoek-van Es C, Briët E, Bertina RM
Thromb Haemost 1986 Feb 28;55(1):122-8. PMID: 3704999
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.
Briët E, Bertina RM, van Tilburg NH, Veltkamp JJ
N Engl J Med 1982 Apr 1;306(13):788-90. doi: 10.1056/NEJM198204013061306. PMID: 7062952

Diagnosis

The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G, Gao M, Cao Q, Li W
Int J Mol Sci 2022 Mar 2;23(5) doi: 10.3390/ijms23052762. PMID: 35269902Free PMC Article
First case report of hemophilia B Leyden in Japan.
Yamashita A, Nagae C, Mori M, Ashikaga T, Kojima T, Taki M
Int J Hematol 2017 Jul;106(1):135-137. Epub 2017 Feb 7 doi: 10.1007/s12185-017-2194-4. PMID: 28168417
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
J Thromb Haemost 2015 Jul;13(7):1184-95. Epub 2015 May 18 doi: 10.1111/jth.12958. PMID: 25851415Free PMC Article

Therapy

Rabbit polyclonal antibodies against the calcium-dependent conformation of factor IX and their application in solid phase immunoradiometric assays.
Poort SR, van der Linden IK, Krommenhoek-van Es C, Briët E, Bertina RM
Thromb Haemost 1986 Feb 28;55(1):122-8. PMID: 3704999
The prophylactic treatment of hemophilia B Leyden with anabolic steroids.
Briët E, Wijnands MC, Veltkamp JJ
Ann Intern Med 1985 Aug;103(2):225-6. doi: 10.7326/0003-4819-103-2-225. PMID: 4014904

Prognosis

First case report of hemophilia B Leyden in Japan.
Yamashita A, Nagae C, Mori M, Ashikaga T, Kojima T, Taki M
Int J Hematol 2017 Jul;106(1):135-137. Epub 2017 Feb 7 doi: 10.1007/s12185-017-2194-4. PMID: 28168417
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
J Thromb Haemost 2015 Jul;13(7):1184-95. Epub 2015 May 18 doi: 10.1111/jth.12958. PMID: 25851415Free PMC Article
An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein.
Savinkova L, Drachkova I, Arshinova T, Ponomarenko P, Ponomarenko M, Kolchanov N
PLoS One 2013;8(2):e54626. Epub 2013 Feb 12 doi: 10.1371/journal.pone.0054626. PMID: 23424617Free PMC Article
Moderate hemophilia B Leyden: identification by polymerase chain reaction, sequencing, and oligomer restriction.
Coyle TE, Spicer T, Michalovic D, Poiesz BJ
Am J Hematol 1994 Jul;46(3):234-40. doi: 10.1002/ajh.2830460314. PMID: 7677806
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM
Hum Genet 1993 Apr;91(3):241-4. doi: 10.1007/BF00218264. PMID: 8478007

Clinical prediction guides

Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
J Thromb Haemost 2015 Jul;13(7):1184-95. Epub 2015 May 18 doi: 10.1111/jth.12958. PMID: 25851415Free PMC Article
An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein.
Savinkova L, Drachkova I, Arshinova T, Ponomarenko P, Ponomarenko M, Kolchanov N
PLoS One 2013;8(2):e54626. Epub 2013 Feb 12 doi: 10.1371/journal.pone.0054626. PMID: 23424617Free PMC Article
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden.
Kurachi S, Huo JS, Ameri A, Zhang K, Yoshizawa AC, Kurachi K
Proc Natl Acad Sci U S A 2009 May 12;106(19):7921-6. Epub 2009 Apr 28 doi: 10.1073/pnas.0902191106. PMID: 19416882Free PMC Article
Binding of the Ets factor GA-binding protein to an upstream site in the factor IX promoter is a critical event in transactivation.
Boccia LM, Lillicrap D, Newcombe K, Mueller CR
Mol Cell Biol 1996 May;16(5):1929-35. doi: 10.1128/MCB.16.5.1929. PMID: 8628259Free PMC Article
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM
Hum Genet 1993 Apr;91(3):241-4. doi: 10.1007/BF00218264. PMID: 8478007

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