Vol 51, No 4 (2020)
Published online: 2020-12-01

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First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases

Monika Pepek12, Wioletta Bal3, Monika Radwanska3, Marcin M. Machnicki1, Malgorzata Kurkowiak14, Malgorzata Rydzanicz5, Agnieszka Pollak5, Piotr Stawinski5, Rafal Ploski5, Radoslaw Chaber36, Tomasz Stoklosa17
DOI: 10.2478/ahp-2020-0038
Acta Haematol Pol 2020;51(4):220-225.


In this article, we report familial cases of type 2 congenital erythrocytosis (ECYT2) in two siblings, a 2-year-old boy and his younger sister. Both patients were diagnosed based on laboratory findings including erythrocytosis, elevated hemoglobin levels, and hematocrit. Acquired erythrocytosis was excluded based on the clinical features and genetic analysis of genes. Next-generation sequencing was employed for older brother revealing NM_000551.4: c.598C>T, p.Arg200Trp homozygous variant in the gene, the similar variant was detected in the younger sibling. Sequencing analysis confirmed the c.598C>T heterozygous variant in both parents. To the best of our knowledge, these are the first confirmed cases of familial erythrocytosis type 2, also known as Chuvash type, in Poland.

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