A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

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  • Additional Information
    • Source:
      Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
    • Publication Information:
      Publication: Oxford : Wiley-Blackwell
      Original Publication: Oxford : Blackwell Scientific Publications
    • Subject Terms:
      Anemia, Hemolytic/*genetics ; Genetic Testing/*methods ; Hexokinase/*deficiency ; Protein Isoforms/*genetics; Codon, Nonsense ; Hexokinase/adverse effects ; Humans ; Infant ; Male
    • References:
      India Project Team of the International Cancer Genome Consortium (2013) Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Communications, 4, 2873.
      Jamwal, M., Aggarwal, A., Das, A., Maitra, A., Sharma, P., Krishnan, S., Arora, N., Bansal, D. & Das, R. (2017) Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G> A (p.Arg347His) causing hemolysis in an Indian infant. Clinica Chimica Acta, 468, 81-84.
      Jamwal, M., Aggarwal, A., Sachdeva, M.U.S., Sharma, P., Malhotra, P., Maitra, A. & Das, R. (2018) Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation. Journal of Clinical Pathology, 71, 648-652.
      Kanno, H., Murakami, K., Hariyama, Y., Ishikawa, K., Miwa, S. & Fujii, H. (2002) Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus. Blood, 100, 1930.
      Khazal, S., Polishchuk, V., Manwani, D., Gallagher, P.G., Prinzing, S. & Mahadeo, K.M. (2016) Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood, 128, 735-737.
      Koralkova, P., Mojzikova, R., van Oirschot, B., Macartney, C., Timr, P., Vives Corrons, J.L., Striezencova Laluhova, Z., Lejhancova, K., Divoky, V. & van Wijk, R. (2016) Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1. Blood Cells, Molecules & Diseases, 59, 71-76.
      Murakami, K., Kanno, H., Tancabelic, J. & Fujii, H. (2002) Gene expression and biological significance of hexokinase in erythroid cells. Acta Haematologica, 108, 204-209.
      de Vooght, K.M.K., van Solinge, W.W., van Wesel, A.C., Kersting, S. & van Wijk, R. (2009) First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis. Haematologica, 94, 1203-1210.
    • Contributed Indexing:
      Keywords: haemolytic anaemia; hexokinase deficiency; inherited anaemias; molecular diagnosis
    • Accession Number:
      0 (Codon, Nonsense)
      0 (Protein Isoforms)
      EC 2.7.1.1 (Hexokinase)
    • Publication Date:
      Date Created: 20190524 Date Completed: 20200716 Latest Revision: 20200716
    • Publication Date:
      20221213
    • Accession Number:
      10.1111/bjh.15981
    • Accession Number:
      31119733