HbA2 and Fetal haemoglobin in the diagnosis of Thalassemia and Hemoglobinopathies

Authors

  • Sandhya Venkatachala Consultant Pathologist Apollo Hospitals Bangalore
  • Manjula Rajendran Assistant Professor Madurai medical college l

Keywords:

Hemoglobin A2, Fetal haemoglobin, Hemoglobinopathy, Thalassemia, capillary electrophoresis

Abstract

Background: Hemoglobin (Hb) disorders which include hemoglobinopathies and Thalassemia affect 7% of the world population. Capillary electrophoresis is useful  for screening and follow up of Hb disorders .

Aim: To evaluate HbA2 and HbF (fetalhemoglobin) in the diagnosis of Thalassemia and hemoglobinopathies.

Material and Methods : 100 consecutive Capillary Hemoglobin electrophoresis  done as a part of screening programme for Hb disorders from Jan2016 to june 2016 was included in the study. Children <1  yr of age and individuals with  recent blood transfusion were excluded  . Hb, RBC count and MCV were recorded.

Results : Of the 100 Hb electrophoresis performed, 57 normal and 43 abnormal patterns were seen. Among the abnormal Hb patterns,   β thalassemia trait (βTT) was the most common constituting 58.2%   followed by Sickle cell (HbS) trait(11.7%), HbE trait(9.3%) and HbE/ β Thalassemia (7.0%). The HbA2 levels in normal, βTT, Sickle cell trait , HbE trait and HbE/ β thalassemia  were 2.12%(SD 0.5), 4.9%(SD 0.62), 3.28%(SD 0.43), 3.98%(SD 0.67) respectively . The difference in HbA2  were  significant (p value <0.0001).The difference in HbA2 levels between HbE trait  and HbE disease was also significant (p value 0.036).Based on the HbF levels Sickle cell hemoglobinopathy was  further classified. 

Conclusion: The difference in  HbA2 levels in normal subjects, Thalassemia and hemoglobinopathies are statistically significant. The percentage of HbF  in sickle cell  gives information about coexisting hemoglobin disorder. In HbEhemoglobinopathy, HbA2 along with HbF identifies a specific group HbE/ β Thalassemia which often needs clinical intervention. 

 

DOI: 10.21276/APALM.1303

Author Biography

Sandhya Venkatachala, Consultant Pathologist Apollo Hospitals Bangalore

Consultant Pathologist

References

1. Wajcman H, Moradkhani K. Abnormal hemoglobins: detection and characterisation. Indian J Med Res 2011;134:538-46.
2. Oyaert M, Van Laer C, Claerhout H, Vermeersch P, Desmet K, Pauwels S et al. Evaluation of SebiaMinicap Flex Piercing capillary electrophoresis for hemoglobinopathy testing. International Journal of Laboratory hematology 2015;37:420-5.
3. Alauddin H, Yusoff MM, Khirotdin A, Azlin I, Ning YZ, Ishak LM et al.HbA2 levels in normal , β thalassemia and haemoglobin E carriers by capillary electrophoresis. Malaysian J Pathol 2012;34:161-4.
4. Mosca A, Paleari R, Leone D, Ivaldi G. The relevance of haemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies. Clinical Biochemistry 2009;42:1797-1801.
5. Youssef E. Thalassemias: detection, characterisation and laboratory interpretation. The Biomedical Scientist 2012;34:363-8.
6. Mais DD, Ronald D, Gulbranson MT, Keren DF. The range of Hemoglobin A2 in Haemoglobin E heterozygotes as determined by Capillary electrophoresis. Am J ClinPathol 2009;132:34-8.
7. Mosca A, Paleari R, Ivaldi G. The role of haemoglobin A2 testing in the diagnosis of thalassemias and related hemoglobinopathies. J ClinPathol 2009;62:13-17.
8. Chandrashekar V, Soni M. Hemoglobin disorders in South India. Hematology 2011.doi:10.5402/2011/748939.
9. Sachdev R, Dam AR, Tyagi G. Detection of Hb variants and hemoglobinopathies in Indian Population using HPLC: report of 2600 cases. IJPM 2010;53:57-62.
10. Rao S, Kar R, Gupta SK, Chopra A, Saxena R. Spectrum of hemoglobinopathies diagnosed by cation exchange-HPLC and modulating effects of nutritional anemias from north India. Indian Journal of Medical Research 2010;132:513-19.
11. Balgir RS. Spectrum of hemoglobinopathies in the State of Orissa, India: a ten years cohort study. Journal of Association of Physicians of India 2005;53:1021-26.
12. Craver RD, Abermanis JG, Warrier RP, Ode DL, Hempe JM. Hemoglobin A2 levels in healthy persons, Sickle cell disease, Sickle cell trait and β thalassemia by capillary isoelectric focusing. Hematopathology 1996;107:88-91.
13. Akinsheye I, Asultan A, Solovieff N, Duyen N, Baldwin CT, Sebastiiani P. FetalHemoglobin in sickle cell anemia. Blood 2011;118:19-27.
14. Shokrani M, Terrell F, Turner EA. Chromatographic measurements of haemoglobin A2 in blood samples that contain sickle haemoglobin. Ann Clin Lab Sci 2000;30:191-4.
15. Ajjack EA, Awood HA, Abdalla SE. Hemoglobin patterns in patients with sickle cell hemoglobinopathies. International Journal of Hematological Disorders 2014;1:8-11.
16. Duyen An, Aygun B, Akinsheye I, Hankin JS, Bhan I, Luo HY et al. FetalHemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin 2011;156:259-64.
17. Bachir D, Galacteros F. Hemoglobin E disease. OrphanetEncyclopedia 2004.
18. Prasing W, Pornprasert S. Measurement of HbA2 by Capillary electrophoresis for diagnosing β thalassemia/HbE disease in patients with low HbF. Lab Medicine Summer 2014;45:226-30.
19. Harteveld C, Higgs DR. α–thalassemia. Orphanet journal of rare diseases 2010;5:13-34.
20. Torres LD, Okumura JV, Humberto De Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: Origin, distribution and laboratory diagnosis. Brazilian Journal of Hematology and Hemotherapy 2015;37:120-6.

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Published

01-09-2017

How to Cite

1.
Venkatachala S, Rajendran M. HbA2 and Fetal haemoglobin in the diagnosis of Thalassemia and Hemoglobinopathies. Ann of Pathol and Lab Med [Internet]. 2017 Sep. 1 [cited 2024 Dec. 30];4(4):A446-453. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/apalm1303

Issue

Vol. 4 No. 4 (2017)

Section

Original Article

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Copyright (c) 2017 Sandhya Venkatachala, Manjula Rajendran

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