Abstract

Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.
Lingua originaleEnglish
pagine (da-a)1368-1374
Numero di pagine7
RivistaHaematologica
Volume94
DOI
Stato di pubblicazionePubblicato - 2009

Keywords

  • Adolescent
  • Adult
  • Asian Continental Ancestry Group
  • Child
  • Child, Preschool
  • European Continental Ancestry Group
  • Evidence-Based Medicine
  • Female
  • Founder Effect
  • Haplotypes
  • Humans
  • Infant
  • Italy
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Mutation
  • Pedigree
  • Receptors, Thrombopoietin
  • Thrombocytosis
  • Thrombopoietin
  • Young Adult

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