Disease Information for Anemia, hereditary hemolytic,nonspher'c

Hereditary Nonspherocytic Hemolytic

HNHA

NSA

Disorder Subdivisions

General Discussion

Hereditary Nonspherocytic Hemolytic Anemia is a term used to describe a group of rare genetic blood disorders characterized by defective red blood cells (erythrocytes) that are not abnormally "sphere-shaped" (spherocytes). These disorders are thought to be caused by defects in the membranes of red blood cells, abnormal metabolism of a chemical contained in hemoglobin (porphyrin), and deficiencies in certain enzymes such as glucose-6-phosphate dehydrogenase (G6PD) or pyruvate kinase. There are approximately 16 red blood cell enzyme abnormalities that may cause Hereditary Nonspherocytic Hemolytic Anemia.

Glucose-6-Phosphate Dehydrogenase Deficiency is one of the most common inherited enzyme abnormalities in humans. There are close to 300 different varieties of enzymatic disorders that have been classified into 5 main groups according to their relationship to red blood cells and the premature destruction of red blood cells (hemolysis). Generally people with Hereditary Nonspherocytic Hemolytic Anemia who also have a glucose-6-phosphate dehydrogenase deficiency have inherited an uncommon variant of this enzyme deficiency characterized by decreased enzyme activity, extremely abnormal kinetics, and reduced heat stability. These factors could account for the defective function of glucose-6-phosphate dehydrogenase [NORD 2005]

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