G6PD deficiency
Welcome to G6PD Deficiency
Welcome to the G6PD deficiency subsection of the Haematology for the MSRA course.
This section is designed to provide comprehensive and structured learning materials to help you understand and master the topic of G6PD deficiency for the MSRA.
Resources for G6PD Deficiency for the MSRA
- G6PD Deficiency Revision Notes for MSRA: Detailed revision notes covering all essential aspects of G6PD deficiency, including causes, symptoms, diagnosis, and treatment. These notes are designed using UK NICE guidelines and are presented in a table format for easy recall.
- G6PD Deficiency Flashcards for MSRA: Interactive flashcards to help you memorise key facts and concepts. Ideal for quick reviews and reinforcing knowledge.
- G6PD Deficiency Accordion Q&A Notes for MSRA: A question-and-answer style resource to test your understanding. Perfect for active learning and reinforcing weak areas.
- G6PD Deficiency Rapid Fire Quiz for MSRA: A short quiz to test your recall of key concepts. An excellent way to assess your progress.
Key Points about G6PD Deficiency
- Definition: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder affecting the red blood cells, leading to their premature breakdown (haemolysis) under certain stressors, such as infections, certain foods (e.g., fava beans), or medications.
- Causes: G6PD deficiency is caused by mutations in the G6PD gene, which is located on the X chromosome. It is more common in males and populations from Africa, the Mediterranean, and parts of Asia.
- Symptoms: Symptoms include episodes of acute haemolysis triggered by certain drugs (e.g., sulfonamides), infections, or ingestion of fava beans. Patients may present with jaundice, dark urine, fatigue, and anaemia.
- Diagnosis: Diagnosis is made by measuring G6PD enzyme activity in red blood cells. A family history may also be suggestive, and genetic testing can confirm the diagnosis in some cases.
- Management: Management involves avoiding known triggers (such as certain drugs and foods) and treating acute episodes of haemolysis with supportive care, including hydration and blood transfusions if necessary.
- Complications: Complications include severe haemolytic episodes that can lead to life-threatening anaemia. Chronic jaundice and gallstone formation are other potential complications.
Make sure to utilise these resources as you revise, and explore related topics in the Haematology section to further enhance your preparation.
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