HbE Variants: An Experience from Tertiary Care Centre of Eastern India

Authors

  • Sriranjan Mukherjee Department of Pathology, IPGME & R, Kolkata, India
  • Mou Das Department of Pathology, IPGME & R, Kolkata, India
  • Keya Basu Department of Pathology, IPGME & R, Kolkata, India
  • Moumita Sengupta Department of Pathology, IPGME & R, Kolkata, India
  • Subhrajyoyi Karmakar Department of Pathology, IPGME & R, Kolkata, India
  • Ashish Kumar Jha Department of Pathology, IPGME & R, Kolkata, India
  • Manimoy Bandopadhyay Director, IPGME & R, Kolkata

DOI:

https://doi.org/10.21276/apalm.2906

Keywords:

HbE disease, HbE carrier, HbE beta thalassemia, HPLC

Abstract

Background- HbE is the second most common structural haemoglobin disorder after sickle cell haemoglobin (HbS). Haemoglobin E (HbE) is variant haemoglobin with a mutation in the globin gene causing substitution of glutamic acid for lysine at position 26 of the globin chain.

Aims & Objectives- 1) To Know demographical parameters of HbE variants and 2) To know the Hematological parameters of HbE variants.

Materials & Methods- The present single-centre, retrospective, cross-sectional study was carried out on consecutive 2035 Hb-E variants who were screened by CE-HPLC for hemoglobinopathies in the Thalassemia control unit (TCU) in our tertiary care referral centre after obtaining the proper approval from ethical committee of the institution and informed consent from the patients. The evaluation was done in Bio-Rad Variant Haemoglobin Testing System (Hercules, California, USA) using variant b-thalassemia short program pack. All the analyses were done using IBM SPSS statistics software, version 19 and MedCalc software, version 12.3.0.0.

Result- Among 2035 subjects’ majority (80%) were diagnosed as HbE carrier. Age ranged from 1 year to 75 years with mean of 19.1±13.2 years. Study population mostly comprised of antenatal mothers (23.2 %) followed by premarital (20.2%), children (18.1 %), post marital (17.4%), %), family member of affected person (16.6%), suspected patient (3.5 %) family member of carrier (0.2%) and others (0.8%).

Conclusion: HbE disorders are paradox: its behaviour ranges from good, bad to ugly and the value of HbE does not correlate with the severity of the diseases.

References

Fucharoen S, Winichagoon P. Haemoglobinopathies in southeast Asia. Indian J Med Res. 2011;134(4):498–506.

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

Premawardhena A, Fisher CA, Olivieri NF, et al. HaemoglobinE beta thalassaemia in Sri Lanka. Lancet 2005; 366:1467-70.

Weatherall D. The inherited disorders of haemoglobin: anincreasingly neglected global health burden. Indian J MedRes 2011; 134:493-7.

Weatherall DJ. Hemoglobin E beta-thalassemia: anincreasingly common disease with some diagnostic pitfalls.JPediatr 1998;132:765-7.

Bachir D, Galacteros F. Hemoglobin E disease. OrphanetEncyclopedia2004; 1-4.

10. Rees DC, Styles S, Vichinsky EP, Clegg JB, Weatherall DJ

(1998) The hemoglobin E syndromes. Ann NY AcadSci

(850):334–343 ases. Hematology 12(4):343–347

Fucharoen S, Weatherall D. The Hemoglobin E Thalassemias.Cold Spring HarbPerspect Med 2012;2:a0117347. Vinchinsky E (2007) Hemoglobin E syndromes. Hematology Am

SocHematolEduc Program 2007(1):79–83.

Higgs DR. 2012. The molecular basis of athalassemia. Cold Spring HarbPerspect Med doi: 10.1101/cshperspect. a011718.

Thein SL. 2012. Molecular basis of b thalassemia. Cold Spring HarbPerspect Med.

Patne SC, Shukla J (2009) Hemoglobin E disorders in Eastern

Uttar Pradesh. Indian J PatholMicrobiol 52:110–2.

Kishore B, Khare P, Gupta JR, Bisht S, Majumdar K (2007)

Hemoglobin disorders in North Indian population: a report of 11

cases. Hematology 2007; 12:343-7.

Sharma A, Buxi G, Marwah S, Yadav R. Haemoglobin E syndromes: emerging diagnostic chalanges in North India. Ind J Hematol Blood Transf 2013; 29:21-5.

Chandrashekar V, Soni M. Hemoglobin disorders in South India. ISRN Hematol 2011; 2011:748939.

Jha BM, Gamit B, Patel J, et al. Hemoglobin e disorders in south Gujarat – a Study of 35 cases. National Journal of Community Medicine 2012; 3:66-7

Eldibany MM, Totonchi KF, Joseph NJ, Rhone D (1999) Usefulnessof certain red blood cells indices in diagnosing and differentiating thalassemia trait from iron deficiency anemia. Am JClinPathol 111(5):676–82.

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Published

30-12-2020

How to Cite

1.
Mukherjee S, Das M, Basu K, Sengupta M, Karmakar S, Jha AK, et al. HbE Variants: An Experience from Tertiary Care Centre of Eastern India. Ann of Pathol and Lab Med [Internet]. 2020 Dec. 30 [cited 2024 Nov. 5];7(12):A570-575. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/2906

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