Hereditary anemia

• 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.

Pictorial representation of Hereditary anemia

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

1. Sickle Cell Anemia: Pain management, hydroxyurea, blood transfusions, bone marrow transplant.

2. Thalassemia: Blood transfusions, iron chelation, folic acid supplements, bone marrow transplant.

3. Hereditary Spherocytosis: Splenectomy, folic acid supplements.

4. G6PD Deficiency: Avoidance of triggers, supportive care during hemolytic episodes.