Skip to main content
Log in

Double heterozygous for hemoglobin S and hemoglobin E — a case report from central India

  • Case Report
  • Published:
Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

Abstract

Double heterozygosity for HbS and HbE is rare. HbS and HbE are seen in SC, ST and OBC communities from this part of country. Inter caste marriages amongst these communities have resulted into this compound heterozygous condition. Double heterozygous state for HbS and HbE is clinically silent as compared to HbS-β Thalassaemia and HbSS cases. At Regional Hemoglobinopathy Detection and Management Center, we report a case of 15-year-old male, Teli (OBC) by caste who came for screening for sickle cell disorder. Sickling, solubility test and Hb electrophoresis on agar gel at alkaline pH was carried out. His sickling and solubility tests were positive and on hemoglobin electrophoresis it showed two bands one at Hb A2 position and another at HbS position. For further confirmation sample was subjected for quantitation of haemoglobin on high performance liquid chromatography (HPLC), Bio-Rad. On quantitation he was having HbS 59.8%, HbE 33.5% and HbF 3.2% confirming his double heterozygous state for HbS and HbE. On family screening his father turned out to be sickle cell trait and mother as hemoglobin E trait.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Abbreviations

Hb:

Hemoglobin

HbA2 :

Hemoglobin A2

HbC:

Hemoglobin C

HbD:

Hemoglobin D

HbE:

Hemoglobin E

HbF:

Fetal Hemoglobin

HbS:

Sickle Hemoglobin

HPLC:

High Performance Liquid Chromatography

Glu:

Glutamic acid

I.G.M.C.:

Indira Gandhi Medical College

Lys:

Lysine

MCH:

Mean Corpuscular Hemoglobin

MCHC:

Mean Corpuscular Hemoglobin Concentration

MCV:

Mean Corpuscular Volume

OBC:

Other Backward Class

O/E:

On Examination

RBC:

Red Blood Cell

RDW:

Red Cell Distribution Width

SC:

Schedule Caste

ST:

Schedule Tribe

References

  1. Lukens JN (1999) The Abnormal Hemoglobins: General Principals in Lee G, Foerster J, Lukens J et al editors: Wintrobe’s Clinical Hematology, 10th ed, Vol. 1. Williams and Wilkins, A Waverly Company, Batimore, USA pp 1333–1343

    Google Scholar 

  2. Balgir RS (1992) Serogenetic variation in a Mech-Kachari tribal population. Man in India 72:293–230

    Google Scholar 

  3. Balgir RS and Sharma SK (1988) Distribution of sickle cell hemoglobin in India. Indian J Hemat 6:1–14

    Google Scholar 

  4. Balgir RS (1996) The prevalence of sickle cell Hemoglobinopathy in India. In The Encyclopedia of Dravidian Tribes (eds Menon, T. M., Sivathanu, C., Prasanth, K. P., Sasikumar, M. and Mathur, P. R. G.), The International School of Dravidian Linguistics, Trivandrum, vol. 1, pp 21–29

    Google Scholar 

  5. Balgir RS (1995) Spatial distribution of red cell hemoglobin D variant in India. Indian Practr 48:128–135

    Google Scholar 

  6. Saha N, Banerjee B (1973) Hemoglobinopathies in the Indian subcontinent. Acta Genet Med Gemellol 22:117–138

    PubMed  CAS  Google Scholar 

  7. Sharma A (1983) Hemoglobinopathies in India. In peoples of India: some genetical aspects. New Delhi: ICMR, 31–49

    Google Scholar 

  8. Mohanty D, Pathare AV (1998) Sickle cell Anemia-the Indian scenario. Indian J Hematol blood transfus 16:1–2

    Google Scholar 

  9. Balgir RS (1996) Genetic epidemiology of the three predominant abnormal Hemoglobins in India. J Assoc Phys India 44:25–28

    CAS  Google Scholar 

  10. Balgir RS (2003) Emerging trends in genetic epidemiology of haemoglobinopathies in Seven Sister States of North Eastern India. In Anthropological Perspectives: North East India (Eds Das Rajat Kumar and Basu Debashish), Akansha Publishing House, New Delhi

    Google Scholar 

  11. Sukumaran PK, Randelia HP, Sanghvi LD, Merchan SM (1961) Thalassaemia syndrome in Mumbai. J Assoc Physican India 9:477

    Google Scholar 

  12. Sharma RS, Parekh JG, Shah KM (1963) Haemoglobinopathies in western India. Annual Report Indian Soc Hemat 4: 36

    Google Scholar 

  13. Ambekar SS, Phadke MA, Mokashi GD, Bankar MP, Khedkar VA, Venkat V, Basutkar DG (2001) Pattern of Hemoglobinopathies in Western Maharashtra. Indian Pediatrics 38: 530–534

    PubMed  CAS  Google Scholar 

  14. Bio-Rad, Variant™ Version 3. β Thal Short Program, Library of Abnormal Hemoglobins. 1999, Catlog No.270-0259,700:469

  15. Wang WC, Lukens JN (1999) Sickle Cell Anemia and Other Sickling Syndromes, in Lee G, Foerster J, Lukens J, et al, editors: Wintrobe’s Clinical Hematology, 10th ed, Williams and Wilkins, A Waverly Company, Batimore, USA, p 1381

    Google Scholar 

  16. Keren DF (2003) Clinical evaluation of hemoglobinopathes: Part II. Stuctural changes. The Warde Report Vol. 14, No. 3

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dani, A.A., Shrikhande, A.V. Double heterozygous for hemoglobin S and hemoglobin E — a case report from central India. Indian J Hematol Blood Transfus 23, 119–121 (2007). https://doi.org/10.1007/s12288-008-0012-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12288-008-0012-0

Keywords

Navigation