1. Beta Thalassaemia Diagnosis Dr. Fatma H Sajwani Specialist Haematologist

2. Investigations for Patients Suspected to Have β Thalassaemia Major / Intermedia: A- Diagnostic Investigations 1) Complete Blood Count (CBC): - WBC usually normal - Low RBC /Hct - Low MCV, MCH & MCHC - Hb Low - Plts usually normal

3. 2) Blood Film: - Anisocytosis - Fragmented RBC - Mainly Microcytosis but occ. Macrocytes - Poikilocytosis - Target cells, teardrop cells - Anisochromasia, Hypochromia - NRBC +++ - Basophilic Stippling

4. Normal Blood Film

5. Blood Film of B-Thalassaemia Major Pateint

6. Blood Film of B-Thalassaemia Trait

7. 3) Reticulocyte Count ; High 4) Sickling Test 5) G6PD screening 6) Iron Study; s.iron, s. ferritin & TIBC 7) Hb Electrophoresis: * Gel electrophoresis * Iso-electric focussing * HPLC 8) DNA Analysis

8. Sickling Test

9. Gel Electrophoresis

13. Iso- electric Focusing

15. HPLC

17. DNA analysis: Separation of MNC from whole blood sample ↓ DNA extraction from MNC ↓ DNA quantitation ↓ DNA amplification by PCR ↓ DNA sequencing ↓ DNA sequence analysis

19. B- Further Baseline Investigations: 1)Blood Group / Extended Grouping 2)Coomb’s Test 3)Skeletal Survey 4)Bone Age estimation 5)LFT 6)TFT 7)Serum Calcium, Phosphate 8)UEG 9)Coagulation Prophile 10)ECG / ECHO 11)Serology for HBV, HCV, HIV & CMV 12)HLA Typing

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