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Understanding G6PD Deficiency and Its Impact on Red Cell Enzyme Function

This overview discusses G6PD deficiency, an X-linked genetic disorder affecting red blood cell enzyme activity. Key enzymes, including G6PD and methhemoglobin reductase, are critical for managing oxidative stress in red blood cells. The deficiency can cause oxidative damage, leading to hemolysis, especially under stress from certain medications, infections, or foods. It highlights the importance of 23-DPG in regulating oxygen dissociation from hemoglobin and discusses the various forms and inheritance patterns of G6PD deficiency, along with its implications for anemia and cell longevity.

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Understanding G6PD Deficiency and Its Impact on Red Cell Enzyme Function

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  1. Red Cell Enzyme defects • ATP required for energy (pumps / glucose) • 23 Diphosphoglycerate (23 DPG) required to regulate Hb/O2 dissociation • Reduction mechanisms for oxidized Globin -- G6PD dependant system Haem -- Methhb. reductase

  2. Critical Enzymes/products • G6PD • MethHb Reductase • Pyruvate Kinase • 23 DPG

  3. G6PD Deficiency • Globin spontaneously undergoes oxidation • Oxidized globin unstable ppts haemolysis • Oxidation stresses eg. Naphthalene Nitrofuradantin Antimalarials Analgesics Infections

  4. G6PD deficiency • Hexose monophosphate shunt products oxidation reduction • G6PD key enzyme • Deficiency leads to failure of reduction of oxydized globin • G6PD def. is relative and is cell age dependent • Older cells more sensitive to oxidant stress

  5. G6PD Deficiency • Frequency Multiple varients 11% of American Negros Mediterranean 1:1000 Jewish sect ---- 50%

  6. G6PD Deficiency • Inheritance X linked Lyon Hypothesis Random inactivation of X chromosome • Expression Normal with level >25% Cong nonspherocytic Haem Anaemia Drug induced Haem Anaemia Favism

  7. Other Anaemias • RBC Aplasia --- Acute/Chronic • Aplastic Anaemia --- All involved Idiopathic/2ary • Renal failure • Hypothyroidism • Chronic disease

  8. Anaemia of Renal Failure • Uremia --- Haemolysis Marrow supression • Haemorrhage • Reduced EPO • Phosphate retention --- O2 diss curve

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