Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

  • Kaniyappan Nambiyar Department of Histopathology, Post Graduate Institute of Medical Education and Research , Chandigarh, India
  • Vijay Kumar Department of Pathology, Post Graduate Institute of Medical Education and Research & Dr RML Hospital, New Delhi, India
  • Sadhna Marwah Department of Pathology, Post Graduate Institute of Medical Education and Research & Dr RML Hospital, New Delhi, India
  • Abhay Shanker Nigam Department of Pathology, Post Graduate Institute of Medical Education and Research & Dr RML Hospital, New Delhi, India
Keywords: HPLC, double heterozygous haemoglobinopathies, Hb E-β thalassemia, Hb S-β thalassemia

Abstract

Background: Haemoglobinopathies and thalassemias are inherited conditions, being diagnosed with increasing prevalence in India. The double heterozygosity for α and β chain variants leads to the formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. Hematological parameters of double heterozygous conditions have not been analysed much in the literature.Methods: This study is a retrospective analysis of haemoglobin High Performance Liquid Chromatography (HPLC) from January 2006 to August 2014. Hematological parameters of these patients were also analysed and correlated with respective haemoglobin HPLC findings. Family screening of cases was also done wherever possible.Result: : Out of 6180 cases, 14 cases were found to be of double heterozygous with 10 cases of Hb E-β thalassemias, and 4 cases of Hb S-β thalassemias.  In Hb E-β thalassemias, significant negative correlation was noted between haemoglobin and Red cell Distribution Width (RDW) and also between RDW and Red Blood Cell (RBC) count. In Hb S-β thalassemias, significant negative correlation was seen between Hb A2 level and RBC count.Conclusion: Although, haemoglobin chain disorders require combination of techniques, HPLC is a cost effective and powerful tool for characterization of these disorders. This study also highlights the importance of hematological parameters (Hb, RDW and RBC count) in elucidation of double heterozygous haemoglobinopathies from much commoner variants of haemoglobinopathies, particularly in under resourced areas. No similar studies correlating HPLC findings and RBC indices have been found in the literature.Although, haemoglobin chain disorders require combination of techniques, HPLC is a cost effective and powerful tool for characterization of these disorders. This study also highlights the importance of hematological parameters (Hb, RDW and RBC count) in elucidation of double heterozygous haemoglobinopathies from much commoner variants of haemoglobinopathies, particularly in under resourced areas. No similar studies correlating HPLC findings and RBC indices have been found in the literature. DOI: 10.21276/APALM.1352

Author Biography

Kaniyappan Nambiyar, Department of Histopathology, Post Graduate Institute of Medical Education and Research , Chandigarh, India
DEPARTMENT OF HISTOPATHOLOGY SENIOR RESIDENT

References

1.Mutreja D, Tyagi S, Tejwani N, Dass J. Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases. Indian J Hum Genet. 2013;19(4):479-82.

2.Agarwal MB. The burden of haemoglobinopathies in India--time to wake up? The Journal of the Association of Physicians of India. 2005;53:1017-8.

3.Bain BJ. Other significant hemoglobinopathies. In: Bain BJ editor. Haemoglobinopathy diagnosis. 2nd edn. Massachusetts: Blackwell Publishing Ltd; 2006. 206-9.

4.Bain BJ. Sickle cell hemoglobin and its interactions with other variant haemoglobins and with thalassaemias. In: Bain BJ editor. Haemoglobinopathy diagnosis. 2nd edn. Massachusetts: Blackwell Publishing Ltd; 2006. 170-3.

5.Sarnaik SA. Thalassaemia and related haemoglobinopathies. Indian J Pediatr. 2005;72:319-24.

6.Olivieri NF, Pakbaz Z, Vichinsky E. Hb E/beta-thalassaemia: a common & clinically diverse disorder. Indian J Med Res. 2011;134:522-31.

7.Mohanty D, Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J, et al. Prevalence of beta-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4(1):33-42.

8.Baruah MK, Saikia M, Baruah A. Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients. Indian J Pathol Microbiol. 2014;57(2):236-43.

9.Rao S, Kar R, Gupta SK, Chopra A, Saxena R. Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India. Indian J Med Res. 2010;132:513-9.
Published
2017-12-10
Issue
Vol 4 No 6 (2017)
Section
Original Article

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