Rare Alpha hemoglobinopathies in Kermanshah Reference Laboratory; Report of Cases Along with Diagnostic Tips

Document Type : Case Report

Authors

1 PhD, Department of Hematology and Blood Bank, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

2 MSc, Department of Medical Microbiology, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran

3 Pathology Department, Medical School, Gonabad University of Medical Sciences (GMU), Gonabad, Iran.

4 BSc, Department of Hematology and Electrophoresis, Kermanshah Reference Laboratory, Kermanshah, Iran

5 PhD, Department of Tissue Engineering, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Abstract

Background: Hemoglobinopathies are a group of qualitative hemoglobin disorders which also happen to be very common in Iran. Some of these cases have severe clinical symptoms and others have none. Specific hemoglobinopathies are seen in certain ethnicities and can also lead to misdiagnosis and misinterpretation by similar electrophoretic motion to other hemoglobin variants.
Case Report: In this article, three patients with rare hemoglobinopathies named Hb Arya, Hb Q-Iran, Setif and two cases of Hb Constant Spring who were referred to Kermanshah Reference Laboratory have been studied and discussed. These hemoglobinopathies are caused by mutations in the alpha chain of hemoglobin, and in addition, Arya and Q-Iran hemoglobinopahies-can interfere with the interpretation of other clinically significant hemoglobinopathies. Hemoglobin Setif can move on electrophoresis similar to hemoglobin S, and its sickling test is a false positive. Finally, hemoglobin Cs could cause more severe hemoglobin H disease if it combines with deletional alpha thalassemia.
Conclusion: Therefore, accurate evaluation of these hemoglobinopathies can prevent further problems.

Keywords

References

  1. Nasiri A, Rahimi Z, Vaisi-Raygani A. Hemoglobinopathies in Iran: an updated review. Int J Hematol Oncol Stem Cell Res 2020; 14(2): 140-50.
  2. Keren DF, Hedstrom D, Gulbranson R, Ou CN, Bak R. Comparison of Sebia Capillarys capillary electrophoresis with the Primus high-pressure liquid chromatography in the evaluation of hemoglobinopathies. Am J Clin Pathol 2008; 130(5): 824-31.
  3. Rasouli Ghahfarokhi SM, Asadi F, Obeidi N. Use of capillary electrophoresis for detection of hemoglobinopathies in individuals referred to health
    centers in Masjed-Soleiman. IJBC 2017; 9(3): 89-92.
  4. Barrett AN, Saminathan R, Choolani M. Thalassaemia screening and confirmation of carriers in parents. Best Pract Res Clin Obstet Gynaecol 2017; 39: 27-40.
  5. Nusrat M, Moiz B, Nasir A, Rasool Hashmi M. An insight into the suspected HbA2'cases detected by high performance liquid chromatography in Pakistan. BMC Res Notes 2011; 4(1): 103.
  6. Rahimi Z. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran. Biomed Res Int 2013; 2013: 803487.
  7. Rahbar S, Mahdavi N, Nowzari G, Mostafavi I. Haemoglobin Arya: alpha 2-47 (CD5), aspartic acid yields asparagine. Biochim Biophys Acta 1975; 386(2): 525-9.
  8. Rahimi Z, Najafi S, Moghofehie L, Amiri E, Vaisi-Raygani A, Rahimi Z. The prevalence of hemoglobinopathies in reference laboratory of Kermanshah, Western Iran. Iran J Public Health 2019; 48(2): 359-61.
  9. Mohd Sahid ENMS, Esa EE, Yasin NY, Su Yee
    KSY, Zakaria Z. A rare hemoglobin variant, Hb Arya in a Malay woman. Asian J Med Biomed 2018; (Suppl 2).
  10. Özdağ H, Yıldız I, Akar N. First observation of homozygote Hb Q-Iran (alpha 75 (EF4) Asp-His). Turk J Haematol 2008; 25(1): 48-50.
  11. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001; 79(8): 704-12.
  12. Rahimi Z, Akramipour R, Vaisi-Raygani A, Nagel RL, Muniz A. An Iranian child with HbQ-Iran [alpha75 (EF4) Asp-->His]/-alpha3.7 kb/IVSII.1 G-->A: first report. J Pediatr Hematol Oncol 2007; 29(9): 649-51.
  13. Farashi S, Garous NF, Vakili S, Ashki M, Imanian H, Azarkeivan A, et al. Characterization of homozygous Hb Setif (HBA2: c. 283G> T) in the Iranian population. Hemoglobin 2016; 40(1): 53-5.
  14. Harteveld CL, Traeger-Synodinos J, Ragusa A, Fichera M, Kanavakis E, Kattamis C, et al. Different geographic origins of Hb Constant Spring [alpha (2) codon 142 TAA-->CAA]. Haematologica 2001; 86(1): 36-8.
Journal of Isfahan Medical School
Volume 40, Issue 686
2nd Week, November
November and December 2022
Pages 693-698

Files

History

  • Receive Date: 30 March 1401
  • Accept Date: 10 July 1401

Share

How to cite

Statistics