Approaching and treating thalassemia

1. Clinical Features:
• Anemia
• Splenomegaly
• Bone changes
• Growth Retardation
Diagnosis Management:
Supportive
Symptomatic
Approaching Thalassemia

2. Diagnosis of thalassemia
Peripheral blood smear Complete Blood Count
Electrophoresis Molecular Method

3. Peripheral Blood Smear
Anisopoikilocytosis:
Target cells
Teardrop cells
Bite cells
Microcytic hypochromic
RBC inclusions:
Heinz bodies
H-J bodies
Pappenheimer
Basophilic stipplings

4. Decreased:
•MCV, MCH, MCHC, Hb (due to ineffective
erythropoiesis)
• RDW, TIBC
Increased:
•Ferritin
•Saturated Transferrin
•serum Iron
Bone marrow:
• hyperplastic with hemosiderin deposition
Complete Blood Count

5. Electrophoresis
Alpha Thalassemias:
Hemoglobin H disease --> HbA↓, HbA2↓ HbH ↑↑
Bart's hemoglobin disease--> HbA, HbA2 absent Hb-Barts↑↑
Beta Thalassemias:
Beta thal. Intermedia--> HbA↓, HbA2↑ HbF↑↑
Beta thal. Major--> HbA absent, HbA2↑ HbF↑↑

6. Molecular Diagnosis
Gene mapping
based on PCR
Detect gene deletion
or mutations

7. Prenatal diagnosis

8. Management of Thalassemia
Correction of
Anemia
Decrease Toxic
Iron level
Fetal
hemoglobin
Stimulation
Reduction of
Hemolysis
Lifestyle
Encouragement
Symptomatic Supportive

9. 1. Correction of anemia:
Blood Transfusion
Also Improves growth and Bone structure
Required by:
• Transfusion-dependent thalassemia
patients
Done every 4-6 weeks 15-20ml/kg of
packed red cells.
blood group matching and disease
screening is done before transfusion

10. 2. Removal of Toxic Iron Levels
Iron Chelation Therapy
• Deferioxamine
Dosage: 50 mg/kg/day until ferritin
levels fall below 1000ng/ml
Other agents
• Deferiprone
• Desferrioxamine
• Deferasirox
Folate supplement: 1-5 mg/day
Prophylactic penicillin: 125mg/day

11. 3. Reduction of Rampant Hemolysis
Splenectomy
Indications:
• mechanical discomfort
• Blood requirements ↑↑
• Hypersplenism
High risk of bacterial infections like:
Neisseria meningitis
Streptococcus pneumoneae
Immunization beforehand
lifelong prophylaxis required

12. 4. Fetal Hemoglobin Stimulation
Useful in beta thalassemia
Stimulation of gamma genes expression
• Hydroxyurea
Other agents:
• Butyrate derivatives
• Erythropoietin
• 5-Azacytadine

13. Supportive: Lifestyle and encouragement
Moniter:
• Iron Levels
• Growth
• Bone structures
• Bacterial infections
Personal life:
• Exercise
• Sanitation
• Social awareness
• Education
• Inspiration
• Purpose of life