Article
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Blood cells, molecules & diseases - 1 Jul 2016
Koralkova Pavla, Mojzikova Renata, van Oirschot Brigitte, Macartney Christine, Timr Pavel, Vives Corrons Joan Lluis, Striezencova Laluhova Zuzana, Lejhancova Katerina, Divoky Vladimir, van Wijk Richard
Abstract excerpt
Hexokinase (HK) is a key enzyme of glycolysis, the only metabolic pathway able to provide the red blood cell with ATP. HK deficiency is a very rare hereditary disorder with severe chronic nonspherocytic hemolytic anemia (HNSHA) as a major clinical feature. To date, only 24 patients with HK deficiency have been identified. Here, we report the molecular analysis of six new cases of HK deficiency. A total of six...
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- Child
- Child, Preschool
- Erythrocytes
- Female
- Genetic Association Studies