Title: HPLC based evaluation of Haemoglobinopathies in a tertiary care setting in North Kerala

Authors: Thundiparambil Raghavan Nisha, Chettithodi Sivasankaran Bindu

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i1.102

Abstract

Introduction-Inherited Haemoglobin disorders are the most common single gene disorders in the world with the highest prevalence in regions where malaria was endemic. The burden of this disorder is of such a magnitude that it represents a major public health concern in the majority of the regions. The common variants prevalent in India are  Hb S, Hb D-, and Hb E . Hb S and Hb E are the common variants prevalent in tribals of India.In Kerala, Hb S is prevalent in tribals of Wayanad and Attapadi, also in a nontribal Chetty community in Wayanad. But the existence of other hemoglobinopathies is still not properly evaluated.

The aim of the present study was to analyze laboratory aspects- hematological profile and HPLC findings of the various hemoglobin variants detected from our Laboratory.

Materials and methods-A total of 4200 cases received from January 2010 to December 2016which came for HPLC to evaluate anaemia. The tests were performed on HPLC instrument BIO-RAD –D10.The principle of the Instrument is Cation Exchange High-Performance Liquid Chromatography. Complete blood count and the peripheral smear of the samples were done in every case. Hb electrophoresis - both acid and alkali were done in selected cases. Family studies were also done in needed cases whenever the situation demanded it.

Results-A total of 4200 cases were studied. Of these, in 1258 cases we could detect abnormal hemoglobin on HPLC, Out of the 4200 case, 2395 cases were from the tribal population of Wayanad, Malappuram, and Palakkad. The major abnormality detected were Hb S and Beta –thalassemia syndromes.

Conclusion- HPLC forms a rapid, accurate and reproducible tool for early detection and management of hemoglobinopathies and variants. Hb S and thalassemias are the common abnormalities found in Northern Kerala.

References

  1. Abnormal hemoglobins in India. In: Sen NN, Basu AK, editors. Trends in Hematology. Calcutta: Saraswati Press; 1975. p. 225-36
  2. Agarwal MB. The burden of haemoglobinopathies in India - Time to wake up? J Assoc Physicians India 2005;53:1017-8.
  3. Feroze M, Aravindan K. Sickle cell disease in Wayanad, Kerala: Gene frequencies and disease characteristics. Natl Med J India. 2001;14:267–70.
  4. Wild BJ, Bain BJ. Investigation of abnormal hemoglobins and thalassemia. In Lewis SM, Bain BJ, Bates I, eds. Dacie & Lewis Practical Hematology. 9th ed. Churchill Livingstone 2001; 231-268.
  5. Office of the Registrar General and Census Commissioner. The total population of scheduled castes and scheduled tribes and their proportions to the total population. New Delhi: Office of the Registrar General and Census Commissioner 2011.
  6. Balgir RS. Genetic epidemiology of the three predominant abnormal haemoglobins in India. J Assoc Physicians India 1996;44:25-8
  7. Sood SK, Madan N, Colah R, Sharma S, Apte SV. Collaborative study on Thalassemia 1993. Report of ICMR task force study. Indian Council of Medical Research
  8. Zeng YT, Huang SZ, Zhou LD, Huang HJ, Jiao CT, Tang ZG, et al. Identification of hemoglobin D Punjab by gene mapping. Hemoglobin 1986;10:87-90
  9. Kishore B, Khare P, Gupta RJ, Bisht S, Majumdar K. Hemoglobin E disease in North Indian population: A report of 11 cases. Hematology 2007;12:343-7
  10. Rohe RA, Sharma V, Ranney HM. Hemoglobin D Iran alpha A2 beta 22 2-Glu leads to Gln in association with thalassemia. Blood 1973;42:455-62.
  11. Joutovsky A, Hadzi-Nesic J, Nardi MA. HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: A study of 60000 samples in a clinical diagnostic laboratory. Clin Chem 2004;50:1736-47.
  12. Chakraborty S, Chanda D, Gain M,Krishnan P. Interference of the HopeHemoglobin With Hemoglobin A1cResults. Laboratory medicine. 2015;46(3):221-5

Corresponding Author

Chettithodi Sivasankaran Bindu