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Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.

European journal of haematology - 1 Oct 2019

Kristan Aleša, Debeljak Nataša, Kunej Tanja

Abstract excerpt

Familial erythrocytosis (FE) is a congenital disorder, defined by elevated red blood cell number, hemoglobin, and hematocrit. Among eight types of FE, type 4 is caused by variants in the EPAS1 gene. Two other hypoxia-inducible factor alpha (HIFA) subunits, HIF1A and HIF3A, have not yet been associated with medical history of FE, but have potential role in the development of erythrocytosis. To improve diagnosis,...

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Apoptosis Regulatory Proteins
Basic Helix-Loop-Helix Proteins
Databases, Genetic
Genetic Association Studies
Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypoxia-Inducible Factor 1, alpha Subunit

Repressor Proteins

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Identifiers

PMID: 31376207
DOI: 10.1111/ejh.13304

Genes

EPAS1
HIF1A
HIF3A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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