case presentation on hemaglobin sc disease

hemoglobin SC Disease

1. Case-Presentation Dr. Ayesha Khan FCPS resident Hematology Dow University of Health Sciences 1

2. Case # 1 13 year old male presented with: High grade fever for 02 days 2

3. History Physical examination Unremarkable Past history Episode of Bone/Joint pain/tenderness at 5 years of age Transfusion/Therapeutic history unremarkable 3

4. Family history Both parents have Balochi ethnic background 4 ? Mother Father

5. Investigations 5

6. Complete Blood counts 6 PARAMETERS RESULTS NORMAL RANGE HAEMOGLOBIN 11.2 11.5-13.5gm/dl RBC 5.54 3.7-5.2x10E12/L HEMATOCRIT 33 33-39% MCV 50 70-86fL MCH 20 23-31pg MCHC 33 30-36gm/dl RDW 14.4 <16.0% WBC 7.2 4-11x10E9/L Platelet 150 150-400x10E9/L

7. Peripheral Film 7 40 x 100 x

8. Investigation Dengue NS1- negative MP ICT- negative

9. What further tests should be done?? 9

10. Hemoglobin Electrophoresis (On Cellulose Acetate) 10 A F S A 2 Patient

11. Differential Diagnosis 11

12. Differential Diagnosis Hemoglobin S/O-Arab disease Hemoglobin S/C disease Hemoglobin S/E disease Hemoglobin D/O-Arab disease Hemoglobin D/C disease Hemoglobin D/E disease 12

13. Sickling Test 13

14. Differential Diagnosis Hemoglobin S/O-Arab disease Hemoglobin S/C disease Hemoglobin S/E disease 14

15. High Performance Liquid Chromatography (HPLC) 15 HAEMOGLOBIN PERCENTAGE NORMAL RANGE Hb A - 96.6%-98.5% Hb A2 4.1% 1.5-3.5% Hb F 1.4% Less than 2.0% Hb C 47.6% - Hb S 46.9% -

16. Hemoglobin Electrophoresis 16 A F S A 2 Mother Father Patient

17. Parental Screening Mother A- 66.7 A2- 3.6 F- 0.3 S- 29.8 Father A- 66.3 A2- 4.7 F – 0.4 C- 28.6 17

18. Diagnosis Hemoglobin SC disease 18

19. Hemoglobin SC disease Compound heterozygous state in which there is co-inheritance of β S and β C genes At position 6, glutamic acid is replaced by valine ( Hb S) on one β-globin chain and by lysine ( Hb C) on the other β-globin chain. Life expectancy is considerably better than that for sickle cell anaemia . 19

20. Incidence & prevalence African descent The prevalence of HbSC disease is relatively higher in West Africa 1 The incidence in the United States is approximately 1 in 833 births per year 1 World-wide, 55,000 new babies born with the disease every year 2 20 1 Tim R. Randolph, in  Rodak's Hematology (Sixth Edition), 2020 2 Bindu K Sathi , Hemoglobin SC Disease: Phenotypic Variability and Therapeutic Options. 2020. American Journal of Biomedical Sciences and research.

21. Pathophysiology HbC inducing, by mechanisms not fully understood, an increase in the activity of K:Cl cotransport that induces the lost of K +  and consequently of intracellular water . This , in turn, increases polymerisation of haemoglobin S which causes sickling 21

22. Clinical manifestations Hemolytic episodes V aso -occlusive episodes (VOE) Infections Stroke Pulmonary hypertension Proliferative retinopathy Necrosis of femoral head Acute chest syndrome (ACS ) Multiple organ dysfunctions 22

23. Laboratory features 23

24. Blood Counts The haemoglobin level (10 – 12 g/ dL ) is higher than in SCA MCV is low MCHC is elevated The reticulocyte count is less markedly elevated than in SCA, with a mean level around 3–6%. 24

25. Blood film Mild-moderate microcytic hypochromic anemia P oikilocytosis Hemoglobin SC crystals Frequent target cells I rregularly contracted cells Boat shaped cells F eatures of hyposplenism 25

26. Investigation Sickling test Hb electrophoresis Capillary zone electrophoresis HPLC Demonstration of haemoglobins S and C with no haemoglobin A and Hb F 1.1-3.3%. A2 is variable. PCR Gene sequencing 26

27. Conclusion 13 year old male presented with high grade fever of 2 days duration L ow MCV and MCH, high RBC, poikilocytosis , irregularly contracted cells, target cells, and boat shaped cells on peripheral film.

28. Conclusion HbSC disease should not be considered a mild form of SCA but as a separate disease and, therefore, the two diseases should no longer be dealt with together either in a clinical setting or in clinical trials.

29. References Barbara J. Bain. 2020. Haemoglobinopathy Diagnosis . 3 rd Edition . John Wiley & Sons Ltd.

30. Thank You 30