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Article

Hexokinase mutations that produce nonspherocytic hemolytic anemia.

Blood cells, molecules & diseases - 1 Jan 1995

Bianchi M, Magnani M

Abstract excerpt

Among glycolytic enzyme defects, hexokinase (ATP: D-hexose 6-phosphotransferase, EC 2.7.1.1; HK) deficiency is a very rare disease where the predominant clinical effect is nonspherocytic hemolytic anemia. Here we report the characterization at molecular level of the HK type I cDNA from a patient with hemolytic anemia due to hexokinase deficiency. PCR amplification and sequence of the cDNA revealed the presence of...

Topics

Alleles
Anemia, Hemolytic, Congenital Nonspherocytic
Base Sequence
Blood Cells
DNA Mutational Analysis
DNA, Complementary
Fibroblasts
Heterozygote
Hexokinase
Humans
Isoenzymes
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Polymerase Chain Reaction

Sequence Deletion

Source

Identifiers

PMID: 7655856
DOI: 10.1006/bcmd.1995.0002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7655856-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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