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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Factor X and its deficiency states.

D J Perry1

  • 1Katharine Dormandy Haemophilia Center and Haemostasis Unit, Department of Haematology, Royal Free Hospital & School of Medicine, Pond Street, London NW3 2QG, UK.

Haemophilia : the Official Journal of the World Federation of Hemophilia
|May 24, 2016
PubMed
Summary
This summary is machine-generated.

Factor X, a key protein in blood clotting, plays a vital role in coagulation. Factor X deficiency, a rare inherited disorder, presents with variable bleeding tendencies and is treated with factor replacement therapy.

Keywords:
deficiencydiagnosisfactor Xgenetreatment

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Area of Science:

  • Biochemistry
  • Hematology
  • Genetics

Background:

  • Factor X is a vitamin-K-dependent serine protease central to blood coagulation.
  • It bridges the intrinsic and extrinsic pathways, forming the prothrombinase complex upon activation.

Purpose of the Study:

  • To detail the role of Factor X in coagulation.
  • To describe the genetic basis and inheritance patterns of Factor X deficiency.
  • To outline current treatment strategies for Factor X deficiency.

Main Methods:

  • Gene cloning and sequencing of Factor X.
  • Analysis of Factor X gene structure and protein homology.
  • Review of Factor X deficiency prevalence and clinical characteristics.

Main Results:

  • The Factor X gene is located on chromosome 13, with exons encoding specific functional domains.
  • Factor X exhibits homology with other vitamin-K-dependent clotting factors.
  • Factor X deficiency is a rare autosomal recessive disorder with variable bleeding, affecting 1:500,000 homozygotes and ~1:500 heterozygotes.

Conclusions:

  • Factor X is crucial for hemostasis, with its gene structure reflecting evolutionary relationships.
  • Factor X deficiency requires careful management, balancing replacement therapy risks like thrombosis.