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Thalassemia, Alpha-thalassemia, Beta-thalassemia - Coggle Diagram
Thalassemia
Types of Thalassemia
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Beta-thalassemia minor (trait): One defective gene, mild anemia
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Beta-thalassemia major (Cooley’s anemia): Two defective genes, severe anemia, requires lifelong transfusions
Management
Mild cases: Often need no treatment, just monitoring
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Iron chelation therapy (deferoxamine, deferasirox) to prevent iron overload
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Supportive care: Vaccinations, antibiotics if splenectomy performed
Prevention
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Prenatal diagnosis (chorionic villus sampling, amniocentesis)
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Clinical Features
General features of anemia: pallor, fatigue, weakness
Bone changes (due to marrow expansion): “chipmunk facies,” frontal bossing
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Diagnosis
CBC: Microcytic hypochromic anemia (low MCV, low MCH) ![download]
Blood smear: Target cells, anisopoikilocytosis
Hemoglobin electrophoresis: Abnormal Hb pattern (↑ HbF, ↑ HbA2 in beta-thalassemia)
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Complications
Iron overload (from transfusions + increased absorption) → damages heart, liver, endocrine organs
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Definition:
Thalassemia is a hereditary blood disorder caused by mutations in the globin genes, leading to reduced or absent synthesis of one of the globin chains of hemoglobin.
Result: Imbalance in α and β globin chains, impaired hemoglobin formation, and varying degrees of anemia.
Pathophysiology
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Excess unmatched chains precipitate inside RBC precursors → membrane damage → apoptosis in bone marrow (ineffective erythropoiesis).
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Consequences: Anemia, marrow expansion, iron overload.
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