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Beta Thalassaemia Diagnosis

Beta Thalassaemia Diagnosis. Dr. Fatma H Sajwani Specialist Haematologist. Investigations for Patients Suspected to Have β Thalassaemia Major / Intermedia : A- Diagnostic Investigations 1) Complete Blood Count (CBC): - WBC usually normal - Low RBC / Hct

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Beta Thalassaemia Diagnosis

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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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