Details
Category: Volume 08 Issue 12 December 2020
Hits: 899

Title: Utility of Hematological Profile along with HPLC in detection of Hemoglobinopathies and study its shortcomings

Authors: Dr Krupa Jog, Dr Varsha Munj, Dr Shruti Shetye, Dr Nelishka Gomes

 DOI: https://dx.doi.org/10.18535/jmscr/v8i12.31

Abstract

Introduction: Hemoglobinopathies are a serious genetic health problem responsible for severe morbidity and mortality worldwide and in India.

Aim & Objective: To analyze the value and limitations of diagnostics like hematological profile, HPLC with parental study and ethnicity for detection of Hemoglobinopathies.

Materials and Method: A total of 2684 cases were screened in a District Hospital based population over a period of 3 years. HPLC was performed on D-10 Biorad analyser and hematological profile was done on 3 part Automated Hematology analyser.

Observation: 238 cases were identified with abnormal variants. β Thalassemia trait was commonest followed by HbS and HbE disease. Migration and settlement of populations from different parts of the country to Goa has resulted in diverse spectrum of hemoglobin disorders.

Borderline HbA2, elution of variants in common window, few rare variants, existence of silent mutations, β Thalassemia causes difficulty in interpretation and requires genetic study for confirmation.

Conclusion: HPLC, hematological profile, family study can help to detect hemoglobinopathies and can be used as a screening tool.

Keywords: HPLC, Hemoglobin variants, Borderline HPLC.

References

  1. Prevention and Control of Hemoglobinopathies in India – Thalassemia, Sickle cell disease and other variant hemoglobins. National Health Mission guidelines on Hemoglobinopathies in India. Ministry of Health and Family Welfare. Government of India.
  2. Past, present & future scenario of thalassaemic care & control in India. Ishwar C Verma,RenuSaxena, Sudha Kohli. Indian Journal of Medical Research. October 2011, Volume 134, Issue 4, Page: 507-521.
  3. Colah R, Italia K, Gorakshakar AC. Burden of thalassemia in India: The road map for control. Paediatric Hematology Oncology Journal 2(4):79-82
  4. Baruah M, Saikia M, Baruah A 2014. The pattern of hemoglobinopathies and Thalassemia in the upper part of Assam region of North Eastern India: High Performance Liquid Chromatography studies in 9000 patients. Indian Journal of Pathology and Microbiology; 57(2): 236-243.
  5. B J Wild and AD Stephens,The use of automated HPLC to detect and quantitate hemoglobins. Clinical and Laboratory Hematology. Vol 19, Number 3;171-176. 1997.
  6. Biorad Laboratories D 10 Hemoglobin Testing System Library of Chromatograms. Page 5-7.
  7. D D Mohanty, R B Colah, AC Gorakshakar et al; P Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. Journal of Community Genetics.  2013 Jan; 4(1): 33–42.
  8. ABC of Thalassemia. An introduction to Thalassemia Screening. Biorad Laboratories. Pg 10.
  9. C N Ou, CL Rognerud. Diagnosis of hemoglobinopathies: electrophoresis HPLC. Clinica Chimica Acta; International Journal of Clinical Chemistry, 01 Nov 2001, 313(1 -2):187-194.
  10. A Rangan , P Sharma, T Dadu, R Saxena, IC Verma and M Bhargava. Β Thalassemia mutations in subjects with borderline HbA2 values. A pilot study in North India. Clinical Chemistry and Laboratory Medicine, Vol 49, No12, Page 2669-2072, 2011.
  11. P Sharma, R Das, ATrehan, Bansal D, Chabra S 2015. Impact of Iron Deficiency Anaemia on Hemoglobin A2% in obligate β Thalassemia heterozygotes. International Journal of Laboratory Hematology,Vol-37, pg 105-111.
  12. A Nadkarni, S Phanasgaonkar, R Colah, D Mohanty, K Ghosh. Prevalence and Molecular Characterisation of  Thalassemia Syndromes among Indians. Genetic Testing, Vol 2, Pg 177-180,2008.
  13. Sachdev, A. R. Dam and G. Tyagi, “Detection of Hb Variants and Hemoglobinopathies in Indian Population Using HPLC: Report of Report of 2600 Cases,” Indian Journal of Pathology and Microbiology, Vol.2600 Cases,” Indian Journal of Pathology and Microbiology, Vol.53 No1 Page 57-62.2010.RB Colah, R Surve, Sawant al. HPLC studies in Hemoglobinopathies, India Journal of Pediatrics. Vol 74,no 7, page 657-662,2007.
  14. Vichinsky E. Hemoglobin E syndromes. Hematology, 2007(1);79-83.
  15. Sood SK, Madan N, Colah R, Sharma S, Apte SV eds Collaborative Study on thalassemia — An ICMR Task Force Study, New Delhi. Indian Council of Medical Research
  16. Weatherall DJ, Clegg JB. The Thalassemia Syndromes. Blackwell Science Ltd 2001
  17. Bain B J. A beginner’s guide to Blood Cells. Blackwell publishing,2004. 2nd
  18. Chui DHK, Fuchareon S, Chan V. Hemoglobin H disease:not necessarily a benign disorder. Blood.2003;101;791-800.
  19. Sachdeva A. Hemoglobinopathies. Jaydeep Brothers Medical Publishers. 2006;60-63.

Corresponding Author

Dr Krupa Jog

North District Hospital, Peddem, Mapusa, Goa, Pin 403507