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Moderately severe hemophilia B

MedGen UID:
798845
Concept ID:
CN200228
Disease or Syndrome
Synonyms: Moderate congenital F9 deficiency; Moderate congenital factor IX deficiency; Moderate hemophilia B; moderately severe factor IX deficiency; moderately severe haemophilia type B; moderately severe hemophilia B; moderately severe hemophilia type B
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0015716
Orphanet: ORPHA169796

Definition

A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVModerately severe hemophilia B
Follow this link to review classifications for Moderately severe hemophilia B in Orphanet.

Professional guidelines

PubMed

Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399

Recent clinical studies

Etiology

Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Windyga J, Stasyshyn O, Lissitchkov T, Mamonov V, Serban M, Rusen L, Ploder B, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620950836. doi: 10.1177/1076029620950836. PMID: 32866032Free PMC Article
Windyga J, Timofeeva M, Stasyshyn O, Mamonov V, Lamas Castellanos JL, Lissitchkov T, Chojnowski K, Chapman M, Pavlova BG, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620946839. doi: 10.1177/1076029620946839. PMID: 32816519Free PMC Article
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334
Geddes VA, Le Bonniec BF, Louie GV, Brayer GD, Thompson AR, MacGillivray RT
J Biol Chem 1989 Mar 15;264(8):4689-97. PMID: 2494175

Diagnosis

Shapiro AD, Di Paola J, Cohen A, Pasi KJ, Heisel MA, Blanchette VS, Abshire TC, Hoots WK, Lusher JM, Negrier C, Rothschild C, Roth DA
Blood 2005 Jan 15;105(2):518-25. Epub 2004 Sep 21 doi: 10.1182/blood-2004-06-2283. PMID: 15383463

Therapy

Laws HJ, Fukutake K, Lopez-Fernandez MF, Li Y, Seifert W, Tagliaferri A
Eur J Haematol 2023 Aug;111(2):293-299. Epub 2023 May 26 doi: 10.1111/ejh.14010. PMID: 37232041
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Windyga J, Stasyshyn O, Lissitchkov T, Mamonov V, Serban M, Rusen L, Ploder B, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620950836. doi: 10.1177/1076029620950836. PMID: 32866032Free PMC Article
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

Prognosis

Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

Clinical prediction guides

Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Windyga J, Timofeeva M, Stasyshyn O, Mamonov V, Lamas Castellanos JL, Lissitchkov T, Chojnowski K, Chapman M, Pavlova BG, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620946839. doi: 10.1177/1076029620946839. PMID: 32816519Free PMC Article
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

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