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Article

Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.

Journal of clinical pathology - 1 Oct 2021

Dongerdiye Rashmi, Jagadeesh Sujatha, Suresh Beena, Rajendran Aruna, Devendra Rati, Warang Prashant, Kedar Prabhakar S

Abstract excerpt

Hexokinase (EC 2.7.1.1, Adenosine Tri Phosphate (ATP): D-hexose-6-phosphotransferase) is a crucial regulatory enzyme of the glycolytic pathway (Embden-Meyerhof pathway). Hexokinase deficiency is associated with chronic non-spherocytic haemolytic anaemia (HA) with some exceptional cases showing psychomotor/mental retardation and fetus death. The proband is a four-and-half-year-old female child born of a...

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Identifiers

PMID: 33361148
DOI: 10.1136/jclinpath-2020-206960

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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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