Hemophilia B; Hemb

Description

Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (OMIM ), which results from deficiency of coagulation factor VIII (F8 ). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993).Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemophilia B; Hemb

  • Immunodeficiency
  • Leukemia
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage
  • Hepatitis
  • Epistaxis
  • Osteoarthritis
  • Intracranial hemorrhage
  • Abnormality of the coagulation cascade

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HEMOPHILIA B; HEMB have a estimated prevalence of 1.7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hemophilia B; Hemb Is also known as christmas disease, factor ix deficiency, f9 deficiency, plasma thromboplastin component deficiency.

Researches and researchers

Doctors, researchs, and experts related to Hemophilia B; Hemb extracted from public data.

Hemophilia B; Hemb Experts map



Current Researchs and researchers

  • VILLEJUIF — Dr Anne WEBER-BENAROUS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — INSERM U 972 - Institut André Lwoff, GHU Paris-Sud - Hôpital Paul Brousse
    • Research area/topic::

      InnovaLiv: Innovative strategies to generate human hepatocytes for treatment of metabolic Liver diseases: Tools for personalized cell therapy


  • VILLENEUVE D'ASCQ CEDEX — Dr Caroline DESOMBRE

    Investigator of research project

    • Institution/s:
      — Univ Lille Nord de France Université de Lille 3
    • Research area/topic::

      Students affected by hemophilia and other family-related hemorrhagic diseases: how to restore equal opportunities at school


  • GREIFSWALD — Pr Ute FELBOR

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Matthias RATH

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Winnie SCHRÖDER

    Responsible for diagnostic tests - Investigator of research project - Contact person of registry

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • FERRARA — Pr Mirko PINOTTI

    Investigator of research project

    • Institution/s:
      — Dipartimento di Biochimica e Biologia Molecolare - Sez. di Biologia Molecolare, Università degli Studi di Ferrara
    • Research area/topic::

      Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations



Mendelian

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Hemophilia B; Hemb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Factor IX full gene sequencing.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center (United States).

F9
Specificity
100 %
Genes
100 %
DNA Hemophilia B Mutation Evaluation.

By Genomics - Bleeding Disorders BloodworksNW (United States).

F9
Specificity
100 %
Genes
100 %
Hemophilia B.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

F9
Specificity
100 %
Genes
100 %
F9 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

F9
Specificity
100 %
Genes
100 %
F9 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

F9
Specificity
100 %
Genes
100 %
Hemophilia B.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

F9
Specificity
100 %
Genes
100 %
Hemophilia B (F9) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

F9
Specificity
100 %
Genes
100 %
Hemophilia B (F9) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

F9
Specificity
100 %
Genes
100 %

We have 44 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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