Anubhuti Chaturvedi*, Sarika Singh, Lity Dhar and Rabish Kumar

Department of Pathology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India

*Corresponding Author: Anubhuti Chaturvedi, Department of Pathology, Pathology Block, Maulana Azad Medical College and Lok Nayak Hospital, Bahadur Shah Zafar Marg, New Delhi, India.

Received: June 28, 2024; Published: July 14, 2024

Abstract

We report a case of Hereditary Elliptocytosis (HE) diagnosed incidentally in a 24-year-old female with Pancytopenia, who had multiple underlying comorbidities like Mixed Connective Tissue Disorders (MCTD) and Tuberculosis.
HE is a heterogeneous group of disorders caused by gene mutations, which ultimately affects the red cell cytoskeleton and membrane protein integrity due to mutations in the α-spectrin, β-spectrin, or protein 4.1 genes. Therefore, it presents as a varied clinico-hematological picture.
In the literature reviewed, there have been no correlations between the presence of HE with MCTD or tuberculosis.
Finding a significant amount of elliptocytes on the peripheral smear examination, should raise an index of suspicion and further workup of the patient is warranted, to prevent complications arising out of any hemolytic episode that might occur later.

Keywords: Pancytopenia; Hereditary Elliptocytosis

References

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Citation

Citation: Anubhuti Chaturvedi., et al. “Unlocking the Mystery: Hereditary Elliptocytosis Discovered Amidst Pancytopenia - A Case Report".Acta Scientific Women's Health 6.7 (2024): 13-15.

Copyright

Copyright: © 2024 Anubhuti Chaturvedi., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.