Anemia is a condition characterized by a deficiency in the number or quality of red blood cells (RBCs) or hemoglobin, leading to decreased oxygen transport to the body's tissues.
Anemia can be classified based on its cause into hereditary (genetic) and acquired types.
Hereditary Anemia
Hereditary anemias are caused by genetic mutations that affect the production, structure, or function of RBCs.
Common types include:
1) Sickle Cell Anemia
A mutation in the HBB gene leading to the production of abnormal hemoglobin S.
2) Thalassemia
Mutations in the genes that produce alpha or beta globin chains of hemoglobin.
3) Hereditary Spherocytosis
Mutations in genes encoding RBC membrane proteins, causing spherical RBCs that are prone to hemolysis.
4) Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
A deficiency in the G6PD enzyme, leading to RBC vulnerability to oxidative stress and hemolysis.
Pathophysiology
1) Sickle Cell Anemia
Abnormal hemoglobin causes RBCs to sickle under low oxygen conditions, leading to vaso-occlusion and hemolysis.
2) Thalassemia
Imbalanced globin chain production results in ineffective erythropoiesis and hemolysis.
3) Hereditary Spherocytosis
Defective membrane proteins lead to spherical RBCs that are destroyed in the spleen.
4) G6PD Deficiency
Lack of G6PD enzyme impairs the RBCs' ability to handle oxidative stress, leading to hemolysis.
Symptoms
1) General Anemia Symptoms
Fatigue, pallor, shortness of breath, and dizziness.
2) Specific to Each Type
Sickle Cell Anemia: Pain crises, swelling, frequent infections.
Thalassemia: Bone deformities, growth retardation, splenomegaly.
Hereditary Spherocytosis: Jaundice, splenomegaly.
G6PD Deficiency: Hemolytic episodes triggered by certain foods, infections, or medications.
Diagnosis
1) Blood Tests
CBC, peripheral blood smear, reticulocyte count.
2) Specific Tests
Hemoglobin electrophoresis, genetic testing, enzyme assays.
Treatment
Sickle Cell Anemia: Pain management, hydroxyurea, blood transfusions, bone marrow transplant.
Thalassemia: Blood transfusions, iron chelation, folic acid supplements, bone marrow transplant.
Hereditary Spherocytosis: Splenectomy, folic acid supplements.
G6PD Deficiency: Avoidance of triggers, supportive care during hemolytic episodes.
