Genetic basis of Hemoglobinopathies PDF
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Hawler Medical University
Rozhgar A. Khailani
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This document provides an overview of hemoglobinopathies, a group of inherited disorders affecting hemoglobin production and oxygen transport in red blood cells. It covers the genetic basis, various types, and associated clinical manifestations. The presentation also discusses the process of haemoglobin synthesis and prenatal diagnosis.
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Genetic basis of Hemoglobinopathies and Gene Modifiers Rozhgar A. Khailani Medical Geneticist, PhD Lecturer at College of Medicine...
Genetic basis of Hemoglobinopathies and Gene Modifiers Rozhgar A. Khailani Medical Geneticist, PhD Lecturer at College of Medicine Hawler Medical University Overview of Hemoglobinopathies Hemoglobinopathies are a group of inherited disorders caused by structural abnormalities or imbalances in the production of hemoglobin, the protein responsible for oxygen transport in red blood cells. These conditions can lead to various clinical manifestations, ra nging from mild anemia to severe, life-threatening complications. “Hemoglobinopathy” includes all genetic hemoglobin disorders. These are divided into two main groups as follows: Hemoglobinopathy Reduced Rate of Structural Hemoglobin Hemoglobin Synthesis Variants Hemoglobin Alpha- Beta - Sickle Cell (HbC), (HbE), Thalassemia Thalassemia Disease (HbS) (HbD) Haemoglobin synthesis Types of Hemoglobin in Normal Adult Blood Hemoglobin A Hemoglobin A2 Hemoglobin F (HbA) (HbA2) (HbF) Major component Minor component Fetal hemoglobin (α₂β₂) (α₂δ₂)
