Abstract
The red blood cell possess an active metabolic machinery that provides the cell with energy to pump ions against electrochemical gradients, to maintain its shape, to keep hemoglobin iron in the reduced (ferrous) form, and to maintain enzyme and hemoglobin sulfhydryl groups [...]
Highlights
Hereditary nonspherocytic hemolytic anemia occurs as a consegroups
The main source of metabolic energy comes from glucose. quence of other enzyme deficiencies, the most common of which is Glucose is metabolized through the glycolytic pathway and through the pyruvate kinase (PK) deficiency.[4,5,6] Deficiencies of glucosephoshexose monophosphate shunt
Adenosine diphosphate (ADP) is phosphorylatly ed to adenosine triphosphate (ATP), and nicotinamide adenine dinucleotide (NAD)+ is reduced to NADH in glycolysis. 2,3
Summary
Most red cell enzyme defects are transmitted as autosomal recessive disorders, while G6PD and phosphoglycerate kinase deficiencies are X linked. There are no exact and verified figures regarding the occurrence of red blood cell enzyme disorders, other than the number of cases reported in literature (Table 1). This is due to the lack of a certified registry. Another important issue contributes to the limited knowledge on epidemiology of red cell enzyme disorders. This concerns the fact there are [Thalassemia Reports 2013; 3(s1):e33]
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