G6PD converts glucose-6-phosphate into 6-phosphoglucono-δ-lactone and is the rate-limiting enzyme of this metabolic pathway that supplies reducing energy to cells by maintaining the level of the reduced form of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH).
In hereditary spherocytosis, red blood cells fail to pass through and get phagocytosed, causing extravascular hemolysis. Diagnosis. In a peripheral blood smear, the red blood cells will appear abnormally small and lack the central pale area that is present in normal red blood cells.
Autoimmune hemolytic anemia (AHA) is a group of conditions where a person’s immune system destroys their red blood cells (RBCs). Autoimmune hemolytic anemia (AHA) is a group of conditions where a person’s immune system destroys their red blood cells (RBCs).
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.
Sickle cell disease (a hemoglobinopathy—see Hemoglobinopathies) causes a chronic hemolytic anemia occurring almost exclusively in blacks. It is caused by homozygous inheritance of Hb S. Sickle-shaped RBCs cause vaso-occlusion and are prone to hemolysis, leading to severe pain crises, organ ischemia, and other systemic complications.
More severe thalassemias are suspected in patients with a family history, suggestive symptoms or signs, or microcytic hemolytic anemia. If thalassemias are suspected, laboratory tests for microcytic and hemolytic anemias and quantitative hemoglobin studies are done. Serum bilirubin, iron, and ferritin levels are increased.