Haema 2013; 4(1):66-77
by Antonia Vlachou,1 Antonis Kattamis2
2First Department of Pediatrics, Athens University, St. Sophia’s Children’s Hospital, Athens, Greece
Mutations leading to red cell enzyme deficiencies can be associated with diverse phenotypes that range from hemolytic anemia, methemoglobinemia, polycythemia, neurological and developmental abnormalities. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is the most common human enzyme defect, usually presenting with episodes of hemolysis. Among the defects in the Embden-Meyerhof glycolytic pathway, red cell pyruvate kinase (PK) deficiency is the most common one. Its clinical phenotype is variable, with chronic hemolytic anemia being the most common presentation. Other red cell enzyme deficiencies are very rare, occur sporadically and have similar clinical presentation. Apart from their enzymatic action, there is growing recognition that many glycolytic enzymes have other functions, including cellular migration, and control of apoptosis.