Hereditary Spherocytosis

A case report

Authors

DOI:

https://doi.org/10.22502/jlmc.v6i1.202

Keywords:

anemia, hereditary spherocytosis, osmotic fragility test, red blood cell

Abstract

Introduction: Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Due to defective cell membrane, red cells are spherical shaped and result in their early lysis. Osmotic fragility of spherocytic red cell is increased.

Case report: A 22 year old female presented with chief complain of abdominal pain. Initially she was diagnosed as cholelithiasis. Under laboratory evaluation she was found to be anemic with reticulocytosis. In peripheral blood smear, spherocytes were moderately distributed. Antihuman globulin test was negative but osmotic fragility was high. Hence, she was confirmed as case of hereditary spherocytosis.

Conclusion: Hereditary spherocytosis is a rare red cell disorder and its diagnosis can be made by osmotic fragility test.

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Author Biographies

  • Surendra Koju, Dhulikhel Hospital - Kathmandu University Hospital

    Medical Hematologist,

    Department of Pathology

  • Ramesh Makaju, Dhulikhel Hospital- Kathmandu University Hospital

    Associate Professor and Head,

    Department of Pathology

References

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Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica. 2008;93(9):1283-1288. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18757847 DOI: https://doi.org/10.3324/haematol.13344

Da-Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013;27(4):167-178. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23664421 DOI: https://doi.org/10.1016/j.blre.2013.04.003

Bolton-Maggs PHB, Langer JC, Iolascon A, Tittensor P, King M-J, General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012;156(1):37-49. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22055020 DOI: https://doi.org/10.1111/j.1365-2141.2011.08921.x

King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol. 2000;111(3):924-933. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11122157 DOI: https://doi.org/10.1111/j.1365-2141.2000.02416.x

King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 2013;35(3):237-243. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23480868 DOI: https://doi.org/10.1111/ijlh.12070

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Published

2018-06-22

Issue

Vol. 6 No. 1 (2018)

Section

Case Report

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How to Cite

1.
Hereditary Spherocytosis: A case report. J Lumbini Med Coll [Internet]. 2018 Jun. 22 [cited 2026 Apr. 17];6(1):41-3. Available from: https://jlmc.edu.np/index.php/JLMC/article/view/202