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Comprehensive Diagnostic Investigations for β-Thalassaemia Major and Intermedia

This guide provides detailed diagnostic investigations for patients suspected of having β-Thalassaemia Major or Intermedia, as outlined by Dr. Fatma H. Sajwani, Specialist Haematologist. Key investigations include Complete Blood Count (CBC), Blood Film analysis, Reticulocyte Count, Sickling Test, G6PD screening, Iron Studies, Hb Electrophoresis, and DNA Analysis. Additional baseline tests such as Blood Group, Coomb’s Test, skeletal surveys, and serological tests for hepatitis and HIV are also essential for a thorough evaluation of thalassaemia.

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Comprehensive Diagnostic Investigations for β-Thalassaemia Major and Intermedia

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  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

  10. Iso- electric Focusing

  11. HPLC

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

  13. B- Further Baseline Investigations: • Blood Group / Extended Grouping • Coomb’s Test • Skeletal Survey • Bone Age estimation • LFT • TFT • Serum Calcium, Phosphate • UEG • Coagulation Prophile • ECG / ECHO • Serology for HBV, HCV, HIV & CMV • HLA Typing

  14. THANKYOU

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