ANEMIA HEMOLYTIC CONGENITAL NONSPHEROCYTIC Meaning and
Definition
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Anemia hemolytic congenital nonspherocytic (CNAH) is a genetically inherited, rare blood disorder characterized by the premature destruction of red blood cells (hemolysis) and a resulting decrease in their numbers, leading to anemia. This condition is labeled as "nonspherocytic" due to the absence of abnormal round-shaped red blood cells typically seen in other types of hemolytic anemias.
CNAH is usually present from birth and is caused by genetic mutations affecting different enzymes or proteins involved in the normal functioning and stability of red blood cells. The precise genetic defects causing CNAH can vary, such as deficiencies in enzymes like glucose-6-phosphate dehydrogenase (G6PD) or pyruvate kinase (PK). These defects impair different metabolic pathways within the cells, ultimately leading to their early breakdown.
The symptoms of CNAH can range from mild to severe and may include fatigue, paleness, shortness of breath, jaundice (yellowing of the skin and eyes), and an enlarged spleen. In severe cases, individuals may experience life-threatening complications like acute anemia requiring blood transfusions or an increased susceptibility to infections.
Treatment options for CNAH aim to manage its symptoms and include regular blood transfusions to address anemia, folic acid supplements to aid red blood cell production, and splenectomy (surgical removal of the spleen) in cases where splenomegaly (abnormally enlarged spleen) causes severe problems. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern and assess the risks of passing on the disorder to future generations.
