HbA2 and Fetal haemoglobin in the diagnosis of Thalassemia and Hemoglobinopathies
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.1303References
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.
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.
Published
2017-09-01
Issue
Section
Original Article
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access at http://opcit.eprints.org/oacitation-biblio.html).
