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Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

British journal of haematology - 1 May 2024

Ukonmaanaho Elli-Maija, Dell'Anna Silvia, Hakonen Anna, Wartiovaara-Kautto Ulla, Kakko Sakari, Rab Minke A E, van Oirschot Brigitte, Kraatari-Tiri Minna, van Wijk Richard, Rahikkala Elisa

Abstract excerpt

The hexokinase (HK) enzyme plays a key role in red blood cell energy production. Hereditary non-spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare disorder with only 12 different disease-associated variants identified. Here, we describe the clinical features and genotypes of four previously unreported patients with hexokinase 1 (HK1)-related HNSHA, yielding two novel truncating HK1 variants....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38415930
DOI: 10.1111/bjh.19368

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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