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Protein C system defects in Indian children with thrombosis

P K Gupta1, Rafeeq P H Ahmed, Maitreyee Bhattacharyya

  • 1Department of Haematology, I.R.C.H. Building (1st Floor), All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110 029, India.

Annals of Hematology
|September 28, 2004
PubMed

Insights

Protein C system defects are common causes of thrombophilia in Indian children, differing from Caucasian profiles. This study investigated genetic factors contributing to thrombosis in young Indian patients.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Ethnic variations exist in inherited genetic defects.
  • The clinico-hematological profile of Indian children with thrombophilia may differ from Caucasians.

Purpose of the Study:

  • To analyze the phenotypic and genotypic causes of thrombophilia in Indian children.
  • To investigate thrombophilia in pediatric patients with arterial and venous thrombosis.

Main Methods:

  • Screening with Pro C Global assay and measurement of activated protein C resistance (APCR).
  • Testing for protein C (PC), protein S (PS) deficiencies, factor V G1691A, prothrombin G20210A, and MTHFR C677T polymorphism in 40 pediatric patients.
  • Analysis of 21 patients with arterial and 19 patients with venous thrombosis.

Main Results:

  • Protein C system defects were common in Indian children with thrombosis.
  • PC deficiency: 19% (arterial), 26.3% (venous). PS deficiency: 33.3% (arterial), 26.3% (venous). Combined PC and PS deficiency: 4.8% (arterial), 21% (venous).
  • Factor V G1691A heterozygous defect: 4.8% (arterial), 15.8% (venous). MTHFR C677T heterozygous polymorphism: 23.8% (arterial), 21% (venous). Prothrombin G20210A was absent.

Conclusions:

  • Protein C system defects are a frequent cause of thrombophilia in Indian children.
  • The study highlights specific genetic predispositions in Indian pediatric thrombophilia.
  • Findings suggest a distinct etiological profile compared to Caucasian populations.

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