Hereditary Anemia

• Hereditary anemia is caused by genetic mutations that affect the production, structure, or function of RBCs.

Common Types of Hereditary Anemia:

1. Sickle Cell Anemia

   • Mutation in the HBB gene leads to abnormal hemoglobin S (HbS).

2. Thalassemia

   • Mutations in genes producing alpha or beta globin chains.

3. Hereditary Spherocytosis

   • Mutations in genes encoding RBC membrane proteins, causing spherical RBCs prone to hemolysis.

4. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

   • Deficiency of the G6PD enzyme, making RBCs vulnerable to oxidative stress and hemolysis.

Pathophysiology of Hereditary Anemia:

• Sickle Cell Anemia: Abnormal HbS causes RBCs to sickle under low oxygen, leading to vaso-occlusion and hemolysis.
• Thalassemia: Imbalanced globin chain production results in ineffective erythropoiesis and hemolysis.
• Hereditary Spherocytosis: Defective membrane proteins produce spherical RBCs destroyed in the spleen.
• G6PD Deficiency: Lack of G6PD impairs RBCs’ ability to handle oxidative stress, causing hemolysis.

Symptoms

• General Anemia Symptoms: Fatigue, pallor, shortness of breath, dizziness.
• Specific Symptoms:
  • Sickle Cell Anemia: Pain crises, swelling, frequent infections.
  • Thalassemia: Bone deformities, growth delays, splenomegaly.
  • Hereditary Spherocytosis: Jaundice, enlarged spleen.
  • G6PD Deficiency: Hemolytic episodes triggered by certain foods, infections, or medications.

Diagnosis

• Blood Tests: Complete blood count (CBC), peripheral blood smear, reticulocyte count.
• 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.

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