Hemophilia A; Hema

Description

Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

Clinical Features

Top most frequent phenotypes and symptoms related to Hemophilia A; Hema

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness
  • Arthralgia
  • Arthritis
  • Stroke
  • Muscular dystrophy
  • Bruising susceptibility

And another 20 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 A; HEMA have a estimated birth prevalence of 11.25 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Hemophilia A; Hema Is also known as hemophilia, classic.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hemophilia A; Hema Recommended genes panels

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

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

F8
Specificity
100 %
Genes
100 %
Factor VIII intron 22 inversion.

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

F8
Specificity
100 %
Genes
100 %
Factor VIII intron 1 inversion.

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

F8
Specificity
100 %
Genes
100 %
FVIII Inversions.

By Genomics - Bleeding Disorders BloodworksNW (United States).

F8
Specificity
100 %
Genes
100 %
DNA Hemophilia A mutation evaluation.

By Genomics - Bleeding Disorders BloodworksNW (United States).

F8
Specificity
100 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hemophilia A (Inversion Only).

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

F8
Specificity
100 %
Genes
100 %
Hemophilia A.

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

F8
Specificity
100 %
Genes
100 %

We have 57 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 DIAMOND-BLACKFAN ANEMIA 10; DBA10 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA KOWARSKI SYNDROME

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