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Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

F8

Coagulation Factor VIII

CHR X

Overview

Factor VIII is an essential protein cofactor for blood coagulation. If it is missing, the clotting cascade cannot be completed.

📍 Chromosome

Xq28 (X chromosome)

🧬 Category

Genetic Diseases

🔬 Inheritance

X-linked recessive

📊 Prevalence

1:5,000 male births

Associated Diseases

  • 🩸 Hemophilia A

    Severe bleeding tendency, especially into joints and muscles.

  • 🩸 Joint Damage

    Result of chronic bleeding with insufficient therapy.

🧬 Relevant SNPs

Intron 22 Inv.
Structural
Ref

–

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Alt

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Significance: Most common cause of severe Hemophilia A (~45%). Large inversion.

rs28933981
X:154170707
Ref

C

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Alt

T

Significance: Common mutation (p.Arg593Cys) in severe Hemophilia A.

⚕️ Clinical Management

Prophylactic factor replacement. Modern antibodies (Emicizumab). Gene therapy available.

📚 Data Sources

  • Source: OMIM: #300841
  • Source: dbSNP: rs28933981
  • Source: WFH Guidelines

Biological Function

Factor VIII is an essential cofactor in the blood coagulation cascade. Deficiency leads to prolonged bleeding time and spontaneous bleeds.

Associated Conditions

Hemophilia A (severe, moderate, mild) X-linked Bleeding Disorder Joint Bleeds (Hemarthrosis) Intracranial Bleeds
Molecular Analysis

Analyzed Markers

ID Unknown Pathogenic
Pos: chrX:154836097 | Alleles: -/-

Arg2307Gln - Moderate Hemophilia A. Factor VIII activity: 1-5%.

ID Unknown Pathogenic
Pos: chrX:154170707 | Alleles: -/-

Arg593Cys - Severe Hemophilia A. Factor VIII activity: <1%.