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Article

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

Haematologica - 1 Apr 2013

Tomasic Nikica Ljubas, Piterkova Lucie, Huff Chad, Bilic Ernest, Yoon Donghoon, Miasnikova Galina Y, Sergueeva Adelina I, Niu Xiaomei, Nekhai Sergei, Gordeuk Victor, Prchal Josef T

Abstract excerpt

Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinct cancer phenotypes. Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D. We report a second polycythemic Croatian H191D homozygote distantly related to the first propositus. Three generations of both families were genotyped for analysis of shared...

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Identifiers

PMID: 23403324
DOI: 10.3324/haematol.2012.070508
PMCID: PMC3659987

Genes

VHL
JAK2
SOCS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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