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PA16.1-3 | Welcome to Sickle Cell Disease & Thalassaemia — Hereditary Haemolytic Anaemias
Learning Objectives
- Explain the molecular basis of HbS and how deoxygenation triggers sickling and vaso-occlusion.
- Describe the peripheral blood picture and haematologic indices in sickle cell disease and sickle cell trait.
- Outline the pathogenesis of α- and β-thalassaemia and distinguish thalassaemia major from minor.
- Identify the diagnostic role of haemoglobin electrophoresis/HPLC in hereditary haemolytic anaemias.
- Recognise hereditary spherocytosis and G6PD deficiency as the membrane/enzyme categories of hereditary haemolysis.
INSTRUCTIONS
Hereditary haemolytic anaemias are the most prevalent single-gene disorders worldwide. As a Year-2 student, understanding the β-globin defects behind sickle cell disease and thalassaemia underpins both your haematology and clinical pathology training. These conditions appear on final MBBS theory papers, case discussions, and are the bedrock of transfusion medicine decisions. This module integrates pathogenesis, blood film morphology, and diagnostic algorithms — exactly the triad you will be tested on.
References
- Robbins & Kumar: Basic Pathology, 11th ed., Ch 13 — Diseases of Red Cells (textbook)
- Harsh Mohan: Textbook of Pathology, 8th ed., Ch 12 — Disorders of Erythropoiesis (textbook)
- Wintrobe's Clinical Hematology, 14th ed., Chs 19–20 — Haemoglobinopathies (textbook)
Version 2.0 | NMC CBUC 2024