Pathology - Glucose-6-Phosphate Dehydrogenase Deficiency Anemia
Causes and Distribution of Diseases This is a genetic condition that is inherited in an X-linked recessive manner. It leads to a shortage of an enzyme called glucose-6-phosphate dehydrogenase (G6PD).Impacts a demographic of 10%-15% of individuals of African descent Pathology Peripheral blood smear reveals the presence of bite cells and Heinz bodies, which are clusters of oxidized hemoglobin within the red blood cells. Pathophysiology refers to the study of the functional changes that occur in the body as a result of a disease or injury. G6PD is an enzyme that participates in the synthesis of NADPH in the hexose monophosphate shunt pathway. NADPH is essential for the production of reduced glutathione, a molecule that plays a crucial role in safeguarding hemoglobin against oxidative harm. In the absence of reduced glutathione, hemoglobin undergoes oxidation and leads to the formation of Heinz bodies within the red blood cells. Heinz bodies induce harm to the red blood cell (RBC) membrane, resulting in the elimination of these impaired RBCs in the spleen, ultimately causing anemia. Clinical Presentations Episodic hemolytic anemia with hemoglobinuria can occur when oxidant medications such as primaquine, quinidine, quinine, sulfonamides, and anti-TB treatments are ingested. It can also be caused by the consumption of certain foods, namely fava beans, in the presence of infection. Treatment: Refrain from administering medications with oxidizing properties. G6PD deficiency is associated with an elevated level of resistance to malaria.
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