Medical Case Studies

  • Abbreviation: Med. Case Stud.
  • Language: English
  • ISSN: 2141-6532
  • DOI: 10.5897/MCS
  • Start Year: 2010
  • Published Articles: 40

Case Report

Autosomal dominant inheritance with variable penetrance in primary familial and congenital polycythemia: A family tree

Jain P. K.,
  • Jain P. K.,
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
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Siddiqui M. Z.,
  • Siddiqui M. Z.,
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
  • Google Scholar
Gaba R.
  • Gaba R.
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
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Srivastava G.,
  • Srivastava G.,
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
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Jaiswal P.,
  • Jaiswal P.,
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
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Srivastava S.
  • Srivastava S.
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
  • Google Scholar
Shukla A.
  • Shukla A.
  • Department of Medicine, MLB Medical College, Jhansi (U.P.) - 284128, India
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  •  Accepted: 05 January 2012
  •  Published: 30 May 2012

Abstract

 

Primary familial and congenital polycythemia is a rare congenital disorder with only one case ever reported from Indian Subcontinent. Here, we are reporting an entire family inflicted with primary familial and congenital polycythemia, first ever of its kind from Indian subcontinent. We are of firm belief that our report would create awareness among medical fraternity in India about this under reported disorder.

 

Keywords: Primary familial and congenital polycythemia, erythropoietin, autosomal dominant, variable penetrance, sporadic, erythropoietin receptor, Chuvash polycythemia.