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Renin Angiotensin Mechanism.

Glucose-6-Phosphate Dehydrogenase (G6PD)deficiency.

 

Definition:

  • A genetic disorder that results in a deficiency of an enzyme called glucose -6-phosphate dehydrogenase (G6PD) in the blood, which is necessary for the healthy and proper functioning of red blood cells. 

Causes

  • G6PD deficiency is caused by the inheritance of a defective gene from a parent. This is linked to the X- chromosome. 

  • The deficiency leads to breakdown of red blood cells' prematurely resulting in haemolytic anemia.

  • The condition is triggered by:

  • Infections- bacterial or viral infections

  • Certain medicines like antimalarial drugs Eg: Primaquine and Chloroquine

  • Certain foods like fava beans

  • High dose of intravenous vitamin C.

  • Risk factors include

    • Gender - More likely among boys

    • Family history.

Symptoms:

  1. rapid heart rate

  2. shortness of breath

  3. urine that is dark or yellow-orange

  4. fever

  5. fatigue

  6. dizziness

  7. paleness

  8. jaundice, or yellowing of the skin and whites of the eyes

Diagnosis:

  • Check G6PD enzyme levels.

  • Complete blood count, 

  • Serum hemoglobin test, 

  • Reticulocyte count. 

Treatment:

  • Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms.

  • If the condition was triggered by an infection, then the underlying infection is treated accordingly. 

  • Any current medications that may be destroying red blood cells are also discontinued. 

  • Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels.

Commonly Asked Question.

  1. Write a short note on Glucose 6 Phosphate Dehydrogenase deficiency.
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