Skip to main content
Log in

Hb SE disease: a clinico-hematological profile

  • Original Article
  • Published:
Annals of Hematology Aims and scope Submit manuscript

Abstract

Hb S and Hb E are globally common hemoglobinopathies. However, Hb SE double heterozygous state is uncommon, with only 25 cases reported so far in literature. We present two more cases. One presented with gallstones, and the other was asymptomatic. This type of disorder was previously described as a relatively asymptomatic condition compared to HbSS. A review of the 25 reported cases in literature shows that 40.7% (11/27) of these cases are symptomatic. Gender, hematological parameters and levels of Hb S, E or F do not predict clinical severity.

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

References

  1. Lukens JN (2004) Abnormal hemoglobins: general considerations. In: Greer JP, Foerster J, Lukens JN et al (eds) Wintrobe’s clinical hematology, 11th edn. Lippincott Williams & Wilkins, Philadelphia, pp 1247–1262

    Google Scholar 

  2. Bio-Rad Variant Library of Abnormal Hemoglobins Ver 2.0 (1996) Abnormal hemoglobin candidates: an aid to interpretation. Catalog no. 270–0259

    Google Scholar 

  3. Wild BJ, Bain BJ (2001) Investigation of abnormal hemoglobins and thalassemia. In: Lewis SM, Bain BJ, Bates I (eds) Dacie and Lewis practical hematology, ninth edn. Churchill Livingstone, Edinburgh, pp 231–268

    Google Scholar 

  4. Vishwanathan C, Agarwal MB, Bichille LS, Bhave AB (1992) Double heterozygosity for hemoglobin S and E. Indian Pediatr 29:895–897

    CAS  PubMed  Google Scholar 

  5. Aksoy M, Lehmann H (1957) The first observation of sickle cell hemoglobin E disease. Nature 179:1248–1249

    CAS  Google Scholar 

  6. Aksoy M (1960) The hemoglobin E syndromes. II. Sickle cell-hemoglobin E disease. Blood 15:610–613

    CAS  PubMed  Google Scholar 

  7. Gupta R, Jarvis M, Yardumian A (2000) Compound heterogygosity for hemoglobin S and hemoglobin E. Br J Haematol 108(3):463

    Article  CAS  PubMed  Google Scholar 

  8. Rey KS, Unger CA, Rao SP, Miller ST (1991) Sickle cell-hemoglobin E disease: clinical findings and implications. J Pediatr 119(6):949–951

    CAS  PubMed  Google Scholar 

  9. Ramahi AJ, Lewkow LM, Dombrowski MP, Bottoms SF (1988) Sickle cell E hemoglobinopathy and pregnancy. Obstet Gynecol 71(3 part 2):493–495

    CAS  PubMed  Google Scholar 

  10. Mukhopadhyay S, Kumar N, Saxena R (2001) Sickle cell-hemoglobin E in an Indian family. Indian J Pathol Microbiol 44(4):465–466

    Google Scholar 

  11. Balgir RS (1996) Genetic epidemiology of the three predominant abnormal hemoglobins in India. J Assoc Phys India 44(1):25–28

    CAS  Google Scholar 

  12. Wang W (2004) Sickle cell anemia and other sickling syndromes. In: Greer JP, Foerster J, Lukens JN et al (eds) Wintrobe’s Clinical Hematology, 11th edn. Lippincott Williams & Wilkins, Philadelphia, pp 1263–1312

    Google Scholar 

  13. Rosenberg MR (1968) In vivo and in vitro interactions of human hemoglobins A, S and C with a variant hemoglobin E. Nature 219:1042–1044

    CAS  PubMed  Google Scholar 

  14. George E, Iqbal QM (1978) Hb ES presenting as avascular necrosis. Southeast Asian J Trop Med Public Health 9(4):568–570, (Abstract)

    CAS  PubMed  Google Scholar 

  15. Englestad BL (1982) Functional asplenia in hemoglobin SE disease. Clin Nucl Med 7(3):100–102

    CAS  PubMed  Google Scholar 

  16. Huisman THJ (1997) Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. Clin Chem 43(10):1850–1856

    CAS  PubMed  Google Scholar 

  17. Schroeder WA, Powars D, Reynolds RD, Fisher JI (1977) Hb-E in combination with Hb-S and Hb-C in a black family. Hemoglobin 1(3):287–289, (Abstract)

    CAS  PubMed  Google Scholar 

  18. Hardy MJ, Ragbeer MS (1985) Homozygous HbE and HbSE disease in a Saudi family. Hemoglobin 9(1):47–52, (Abstract)

    CAS  PubMed  Google Scholar 

  19. Bird AR, Wood K, Leisegang F, Mathew CG, Ellis P, Hartley PS, Karabus CD (1984) Haemoglobin E variants: a clinical, haematological and biosynthetic study of 4 South African families. Acta Haematol 72(2):135–137

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to H. P. Pati.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mishra, P., Pati, H.P., Chatterjee, T. et al. Hb SE disease: a clinico-hematological profile. Ann Hematol 84, 667–670 (2005). https://doi.org/10.1007/s00277-005-1044-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-005-1044-2

Keywords

Navigation