Hereditary combined coagulation factor V and factor VIII deficiency: report of two Indian families from Varanasi

Jyoti Shukla1, Ritu Singhal, R S Garbyal

  • 1Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi.

Insights

This study details a rare combined factor V and factor VIII deficiency, a dual genetic defect in blood clotting. Researchers outline diagnostic methods for this inherited bleeding disorder.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Hereditary blood coagulation factor deficiencies typically affect a single protein.
  • Combined deficiencies are rare, presenting complex diagnostic challenges.

Observation:

  • The study identified 3 patients from 2 unrelated Hindu families in Varanasi with combined factor V and factor VIII deficiency.
  • Clinical features and laboratory findings were documented for these patients.

Findings:

  • The research describes the specific clinical presentations and diagnostic laboratory approaches for combined factor V/VIII deficiency.
  • This highlights a rare inherited coagulopathy.

Implications:

  • Understanding combined factor V/VIII deficiency aids in accurate diagnosis and management of rare bleeding disorders.
  • This research contributes to the genetic and hematological knowledge base for inherited coagulopathies.

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