U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mild hemophilia B

MedGen UID:
1826003
•Concept ID:
C5679574
•
Disease or Syndrome
Synonyms: Mild congenital F9 deficiency; Mild congenital factor IX deficiency; mild factor IX deficiency; mild haemophilia type B; mild hemophilia B; mild hemophilia type B; Mild hereditary factor IX deficiency disease
SNOMED CT: Mild hereditary factor IX deficiency disease (1336091009); Mild hemophilia B (1336091009)
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.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015717
Orphanet: ORPHA169799

Definition

A factor activity level of >5 percent of normal and <40 percent of normal. [from SNOMEDCT_US]

Professional guidelines

PubMed

Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.
Lim HI, DeSancho MT
J Matern Fetal Neonatal Med 2022 Dec;35(25):9759-9764. Epub 2022 Apr 12 doi: 10.1080/14767058.2022.2051699. PMID: 35414333
Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.
Fernando RJ, Farmer BE, Augoustides JG, Gardner JC, Johnson SD, Ha B, Friess JO, Luedi MM, Erdoes G, Miller PJ, Ripat C, Fabbro M
J Cardiothorac Vasc Anesth 2019 Feb;33(2):549-555. Epub 2018 Jun 20 doi: 10.1053/j.jvca.2018.06.005. PMID: 30177475
Comprehensive treatment of periodontitis in patients with von Willebrand disease.
Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049

Recent clinical studies

Etiology

Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.
Jiang X, Xu M, Ding Y, Cao Y, Pan Y
BMC Surg 2022 Apr 1;22(1):124. doi: 10.1186/s12893-022-01553-8. PMID: 35365158Free PMC Article
Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.
Yacoub A, Mohyuddin GR, Nazzaro JM
Int J Neurosci 2019 Sep;129(9):933-935. Epub 2019 Mar 25 doi: 10.1080/00207454.2019.1586685. PMID: 30795708
Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.
Bernardi F, Dolce A, Pinotti M, Shapiro AD, Santagostino E, Peyvandi F, Batorova A, Lapecorella M, Schved JF, Ingerslev J, Mariani G; International Factor VII Deficiency Study Group
J Thromb Haemost 2009 May;7(5):774-9. Epub 2009 Feb 24 doi: 10.1111/j.1538-7836.2009.03329.x. PMID: 19245420
A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population.
Quadros L, Ghosh K, Shetty S
Ann Hematol 2007 May;86(5):377-9. Epub 2007 Feb 17 doi: 10.1007/s00277-007-0250-5. PMID: 17308903
Molecular genotyping of the Italian cohort of patients with hemophilia B.
Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group
Haematologica 2005 May;90(5):635-42. PMID: 15921378

Diagnosis

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.
Schmidt DE, Truedsson Å, Strålfors A, Hojbjerg JA, Soutari N, Holmström M, Ranta S, Letelier A, Bowyer A, Ljung R, Antovic J, Bruzelius M
Thromb Haemost 2024 Jan;124(1):32-39. Epub 2023 Jul 26 doi: 10.1055/a-2142-0262. PMID: 37494968
Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.
Lim HI, DeSancho MT
J Matern Fetal Neonatal Med 2022 Dec;35(25):9759-9764. Epub 2022 Apr 12 doi: 10.1080/14767058.2022.2051699. PMID: 35414333
Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.
Jiang X, Xu M, Ding Y, Cao Y, Pan Y
BMC Surg 2022 Apr 1;22(1):124. doi: 10.1186/s12893-022-01553-8. PMID: 35365158Free PMC Article
Normal activated partial thromboplastin time in Chinese patients with mild hemophilia B.
Wang X, Tang N, Shen N, Zhu Y, Lu Y, Gao L
Hematology 2020 Dec;25(1):484-488. doi: 10.1080/16078454.2020.1853403. PMID: 33295842
A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time.
Park CH, Seo JY, Kim HJ, Jang JH, Kim SH
Blood Coagul Fibrinolysis 2010 Jun;21(4):368-71. doi: 10.1097/MBC.0b013e3283367946. PMID: 20305539

Therapy

A mild hemophilia B case with postoperative bleeds following thromboprophylaxis.
Watakabe M, Shida Y, Ogiwara K, Inagaki Y, Nogami K
Pediatr Int 2022 Jan;64(1):e15365. doi: 10.1111/ped.15365. PMID: 36151915
Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.
Fernando RJ, Farmer BE, Augoustides JG, Gardner JC, Johnson SD, Ha B, Friess JO, Luedi MM, Erdoes G, Miller PJ, Ripat C, Fabbro M
J Cardiothorac Vasc Anesth 2019 Feb;33(2):549-555. Epub 2018 Jun 20 doi: 10.1053/j.jvca.2018.06.005. PMID: 30177475
Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.
Monahan PE, Sun J, Gui T, Hu G, Hannah WB, Wichlan DG, Wu Z, Grieger JC, Li C, Suwanmanee T, Stafford DW, Booth CJ, Samulski JJ, Kafri T, McPhee SW, Samulski RJ
Hum Gene Ther 2015 Feb;26(2):69-81. Epub 2015 Jan 21 doi: 10.1089/hum.2014.106. PMID: 25419787Free PMC Article
Comprehensive treatment of periodontitis in patients with von Willebrand disease.
Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049
Recurrent bleeding following traumatic hyphema due to mild hemophilia B (Christmas disease).
Wilker SC, Singh A, Ellis FJ
J AAPOS 2007 Dec;11(6):622-3. Epub 2007 Aug 27 doi: 10.1016/j.jaapos.2007.06.009. PMID: 17720569

Prognosis

Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.
Yacoub A, Mohyuddin GR, Nazzaro JM
Int J Neurosci 2019 Sep;129(9):933-935. Epub 2019 Mar 25 doi: 10.1080/00207454.2019.1586685. PMID: 30795708
Comprehensive treatment of periodontitis in patients with von Willebrand disease.
Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049
Molecular genotyping of the Italian cohort of patients with hemophilia B.
Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group
Haematologica 2005 May;90(5):635-42. PMID: 15921378
Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.
Lefkowitz JB, Nuss R, Haver T, Jacobson L, Thompson AR, Manco-Johnson M
Thromb Haemost 2001 Sep;86(3):862-70. PMID: 11583320
Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).
Hamaguchi M, Matsushita T, Tanimoto M, Takahashi I, Yamamoto K, Sugiura I, Takamatsu J, Ogata K, Kamiya T, Saito H
Thromb Haemost 1991 May 6;65(5):514-20. PMID: 1871712

Clinical prediction guides

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.
Schmidt DE, Truedsson Å, Strålfors A, Hojbjerg JA, Soutari N, Holmström M, Ranta S, Letelier A, Bowyer A, Ljung R, Antovic J, Bruzelius M
Thromb Haemost 2024 Jan;124(1):32-39. Epub 2023 Jul 26 doi: 10.1055/a-2142-0262. PMID: 37494968
Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.
Monahan PE, Sun J, Gui T, Hu G, Hannah WB, Wichlan DG, Wu Z, Grieger JC, Li C, Suwanmanee T, Stafford DW, Booth CJ, Samulski JJ, Kafri T, McPhee SW, Samulski RJ
Hum Gene Ther 2015 Feb;26(2):69-81. Epub 2015 Jan 21 doi: 10.1089/hum.2014.106. PMID: 25419787Free PMC Article
Comprehensive treatment of periodontitis in patients with von Willebrand disease.
Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049
Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.
Bernardi F, Dolce A, Pinotti M, Shapiro AD, Santagostino E, Peyvandi F, Batorova A, Lapecorella M, Schved JF, Ingerslev J, Mariani G; International Factor VII Deficiency Study Group
J Thromb Haemost 2009 May;7(5):774-9. Epub 2009 Feb 24 doi: 10.1111/j.1538-7836.2009.03329.x. PMID: 19245420
Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.
Lefkowitz JB, Nuss R, Haver T, Jacobson L, Thompson AR, Manco-Johnson M
Thromb Haemost 2001 Sep;86(3):862-70. PMID: 11583320

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...