Case presentation onHeterozygous variant of Hemoglobin E

case presentation on heterozygous hemoglobin E
investigations
HPLC high performance liquid chromatography test
HbA2
fetal hemoglobin values in different variants of hempglobin
hemoglobinopathies
HbS, HbE, HbD

1. Case presentation on- HETEROZYGOUS VARIANT OF HEMOGLOBIN E Presented by- Dr. Shiny Moderator- Dr. Yadwinder Kaur Virk

2. HISTORY A 34 years old, married female Address- Bathinda Cantt Department- Obs & Gynae HOPI- An ante-natal case, G3 P1 A1 L1 (1 girl child of age 10 years) H/o Hypothyroid in current pregnancy (TSH levels- 5)

3. No transfusion history till date No relevant family history Past history- H/o spontaneous abortion during 2 nd pregnancy during first abortion General physical examination- Pulse- 86 bpm BP- 110/82 mm Hg Weight- 53 kgs Pallor- ++ Icterus- absent Afebrile, no relevant facial features

4. Investigations Hb- 11.2 g/dL RBC Count- 4.51/ uL MCV- 74.2 fl MCH- 24.8 pg TLC- 7700/ uL Platelet count- 1,92,000/ uL Mentzer’s Index- 16.45

5. On HPLC report Hb F- < 0.8 Hb A2- 34.3 Hb Ao - 63.2

6. Proceeding to make a diagnosis Normal Beta-thalassemia Trait Beta Thalassemia Intermedia Beta-thalassemia Major Hb-E Heterozygous Hb-E Homozygous Hb-F <1 Normal or may be high if HbA2>7 Remarkably variable, 5-100%. If HbF >16.5 , it may get eluted with LA1c or A1c window, so no HbF is reported >75% May get eluted with LA1c or A1c window, so no HbF is reported Normal Increased or normal HbA2/ HbA / HbE HbA2 <3.5% HbA2 - 4-9% ( not more than 9) A2- reduced, normal or elevated. HbA - reduced- 10-35% only A2- reduced, normal or elevated. HbA - reduced- 3% only HbE - 30% May elute in HbA2 window HbE - 85-90% May elute in HbA2 window

7. Proceeding to make a diagnosis Compound heterozygous- HbE and Beta Thalassemia Sickle cell heterozygous Sickle cell homozygous Compound heterozygous- HbS and Beta Thalassemia Compound heterozygous- HbS and HbE OTHERS- HbD Punjab HbQ India Hb-F 15-50% 5-25% Elevated Mild elevation HbA2/ HbA / HbE / HbS HbE - 50-80% HbS 30-40% Eluted with HbA2 HbS 70-90% HbS >50% HbA2 elevated Botn HbS and HbE 30-50%

8. CASE VALUES- Hb F- < 0.8 Hb A2- 34.3 Normal Beta-thalassemia Trait Beta Thalassemia Intermedia Beta-thalassemia Major Hb-E Heterozygous Hb-E Homozygous Hb-F <1 Normal or may be high if HbA2>7 Remarkably variable, 5-100%. If HbF >16.5 , it may get eluted with LA1c or A1c window, so no HbF is reported >85% May get eluted with LA1c or A1c window, so no HbF is reported Normal Increased or normal HbA2/ HbA / HbE HbA2 <3.5% HbA2 - 4-9% ( not more than 9) A2- reduced, normal or elevated. HbA - reduced- 10-35% only A2- reduced, normal or elevated. HbA - reduced- 3% only HbE - 30% May elute in HbA2 window HbE - 85-90% May elute in HbA2 window

9. CASE VALUES- Hb F- < 0.8 Hb A2- 34.3 Normal Beta-thalassemia Trait Hb-E Heterozygous Hb-E Homozygous Hb-F <1 Normal or may be high if HbA2>7 Normal Increased or normal HbA2/ HbA / HbE HbA2 <3.5% HbA2 - 4-9% ( not more than 9) HbE - 30% May elute in HbA2 window HbE - 85-90% May elute in HbA2 window

10. DISCUSSION Hemoglobinopathies - Defect in any of the globin genes which results in a structural change or an absence or decrease in the rate of synthesis of hemoglobin • Types:  Structural hemoglobinopathies  Thalassemias  Hereditary persistence of fetal hemoglobin

11. Structural hemoglobinopathies • Hb S: Beta-6 Glutamic acid to Valine • Hb E: Beta-26 Glutamic acid to Lysine • Hb D: Beta-121 Glutamic acid to Glutamine

12. HbE HETEROZYGOUS HOMOZYGOUS IN ASSOCIATION WITH ANOTHER VARIANT