Definition:
Hereditary nonspherocytic hemolytic anemia is a term used to describe a group of rare, genetically transmitted blood disorders marked by the premature destruction of red blood cells (erythrocytes or RBCs). If the red blood cells cannot be replaced faster than they destroy themselves, anemia results.
Diagnosis:
Polychromatophilia and basophilic stippling are known to occur in lead intoxication and P-5'-N deficiency. Serum and urine levels are not increased. An autohemolysis test may show an increase in hemolysis corrected by glucose which confirms defects inherent to RBCs. In the absence of lead poisoning, this may lead to a correct diagnosis of P-5'-N deficiency.
Treatment:
Blood transfusions may occasionally be needed for the treatment of hereditary nonspherocytic hemolytic anemia.
Symptoms and Signs:
The symptoms of hereditary nonspherocytic hemolytic anemia include moderate anemia (which may cause tiredness), and a recurrent yellow appearance of the skin. The patient may also be pale and fatigued.
Causes:
These disorders are caused by, defects in the chemical processes involved in the breakdown of sugar molecules (glycolysis), among other things. Red blood cells depend on this process for energy and if an enzyme is defective in any one of the stages, the red blood cell cannot function properly and hemolysis takes place. In addition, HNSHA may occur as the result of immune disorders, toxic chemicals and drugs, antiviral agents, physical damage, and infections.
:
hereditarynonspherocytichemolyticanemia
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