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Case Studies Hemoglobinopathies

Case Studies Hemoglobinopathies. Haemoglobin Electrophoresis at alkaline pH. (Using abnormal Hbs as markers). Hb C. Hb S. Hb A. Marks position of HbA2. 18 year old young man seen for a medical examination prior to immigration Past medical history unremarkable.

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Case Studies Hemoglobinopathies

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  1. Case Studies Hemoglobinopathies

  2. Haemoglobin Electrophoresis at alkaline pH (Using abnormal Hbs as markers) Hb C Hb S Hb A Marks position of HbA2

  3. 18 year old young man seen for a medical examination prior to immigration Past medical history unremarkable. Family of Sicilian descent. Physical examination is normal Case 1

  4. Case 1 • Hb 132 g/l (140-180) • MCV 66.1 fl (80-100)

  5. Case 1: Blood Film Lymphocyte Microcytosis. Hypochromia

  6. Hb A2 Carbonic Anhydrase Normal Control Hb A Patient Abnormal Control Hemoglobin Electrophoresis at alkaline pH Anode Case 1

  7. Case 1 • Haemoglobin Electrophoresis: • Hb A 94.0% • Hb F <1.5% • Hb A2 5.2%

  8. Diagnosis: β Thalassemia trait Genotype ααβ/ααβ or ααβ/αα- Haemoglobins Produced α δ α β α γ δ α β α γ α Hb F HbA Hb A2

  9. Case 2 • 6 year old African American girl • Admitted to hospital with abdominal pain and fever. • Past history : swelling of hands and feet at age 1 :previous episodes of abdominal pain • Physical examination: pallor mild jaundice hepatomegaly no evidence of infection • Parents healthy

  10. Case 2 Hb 84 g/L (115-155) MCV 86.5 fl (77-95)

  11. Case 2 Sickle cell Target cell Howell Jolly Body Polychromasia Erythroblast

  12. Hb C Hb S Hb F Hb A Abnormal Control Case 2 Normal Control Case 2

  13. Hb S Solubility Test : Case 2

  14. Case 2 • Haemoglobin Electrophoresis: • Hb A 0% • Hb S 87% • Hb F 9.7% • Hb A2 3.3%

  15. Diagnosis : Hb SS Disease Genotype βs/βs Haemoglobins Produced : α δ α s α γ δ α s α γ α Hb F HbSS Hb A2

  16. Case 3 • 6 month old baby girl of Italian ancestry • Failure to thrive and pallor • Family History: no definite history of a blood problem mother "anaemic" during pregnancy; given iron one sibling :history of mild anaemia; given iron • Physical Examination: • pallor • hepatosplenomegaly

  17. Case 3 Hb 69 g/L (105-135) MCV 68.5 fl (70-86)

  18. Case 3 Tear drop cell Erythroblast Microcytes Hypochromia Poikilocytosis

  19. HbF Case 3 Normal Control Case 3

  20. Case 3 • Haemoglobin Electrophoresis: • Hb A 0% • Hb F 98.5% • Hb A2 1.5%

  21. Diagnosis: β Thalassemia major Genotypeαα-/αα- Haemoglobins Produced α δ α γ δ α γ α Hb F Hb A2

  22. Case 4 • 28 year old Thai woman • Life long history anaemia and mild jaundice. • Past history : splenectomy. • Family History : • mother :lifelong microcytic anemia not responsive to iron • father and sister: no known history of blood problem.

  23. Case 4 • Hb 97 g/L (140-180) • MCV 72.1 fl (80-100)

  24. Case 4 Microcytosis and hypochromia Howell Jolly body

  25. Case 4 Normal Control Abnormal Control Abnormal Control Case 4 ?

  26. Case 4 • Haemoglobin Electrophoresis: • Hb A 91% • Fast moving band 8.5 % • Hb A2 and Hb F < 1%

  27. Hb H Preparation Hb H inclusions in RBCs Case 4

  28. Hb H Disease Diagnosis: Hb H Disease Genotype -αβ/--β β β Haemoglobins Produced : β β α δ α β α γ Hb H δ α β α γ α Hb F HbA Hb A2

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