Description

Thalassemia is a group of inherited blood disorders characterized by reduced or absent production of hemoglobin chains, leading to chronic anemia. 🧬 What Is Hemoglobin? Hemoglobin (Hb) is made of: 2 alpha (α) chains 2 beta (β) chains Depending on which chain is affected, thalassemia is classified as: 🔠 Types of Thalassemia 1. Alpha Thalassemia Caused by deletions/mutations in the α-globin genes on chromosome 16 4 genes control alpha chain production (2 from each parent) 2. Beta Thalassemia Caused by point mutations in the β-globin genes on chromosome 11 2 genes control beta chain production (1 from each parent) Inheritance Condition Features 1 mutated gene Beta Thalassemia Trait (Minor) Mild anemia, usually asymptomatic 2 mutated genes (partially functional) Beta Thalassemia Intermedia Moderate anemia, variable symptoms 2 mutated genes (nonfunctional) Beta Thalassemia Major (Cooley’s Anemia) Severe anemia, requires regular transfusions 🧪 Symptoms Especially in Beta Thalassemia Major: Fatigue, pallor Growth delay Bone deformities (especially facial) Enlarged spleen/liver Iron overload (from transfusions) 🔍 Diagnosis CBC: Microcytic, hypochromic anemia Peripheral smear: Target cells, nucleated RBCs Hemoglobin electrophoresis: Abnormal Hb patterns (↑HbF, ↓HbA in β-thalassemia) Genetic testing Iron studies: To distinguish from iron-deficiency anemia 💊 Treatment For Mild forms (trait/minor): Often need no treatment Avoid iron unless deficiency is proven For Moderate to severe forms: Regular blood transfusions Iron chelation therapy (e.g., deferoxamine, deferasirox) to prevent iron overload Folic acid supplementation Splenectomy in some cases Bone marrow (stem cell) transplant — curative in select patients 🧬 Prevention Carrier screening and genetic counseling, especially in high-prevalence areas (e.g., Mediterranean, Middle East, South Asia) Prenatal testing for at-risk couples

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