Common Hereditary Elliptocytosis Diagnosed during a Blood Work Up

Volume 38 Number 2 | April 2024

Mahesh Percy, MBA, DMLT; Alvin Billey, MBBS; and Ewarld Marshall, MD, MScMED

Abstract

In hereditary elliptocytosis (HE), the characteristic finding is elliptical red blood cells (RBCs) on the peripheral smear. The patients are usually asymptomatic and rarely present with hemolysis. Because of the silent nature of this condition, HE is difficult and challenging to diagnose. In this article we are presenting an incidental finding of HE during a blood work-up for a patient who was presented to outpatient clinic with fever and fatigue.

Introduction

Hereditary elliptocytosis is a red cell membrane disorder (genetic disorder) that affects the shape of red blood cells. In this condition, the red blood cells have an elliptical or oval shape, instead of their normal round biconcave shape. This abnormal elliptical shape makes the cells more fragile and prone to lysis, which can lead to anemia. The frequency of this disorder is 1 in 5,000 individuals in the United States. This case is an incidental diagnosis during a work-up for fever, mild leukopenia, and a relative lymphocytosis, which supported a diagnosis of a likely viral infection.

Case report

An 11-year-old male presented to the clinic with history of fever and fatigue. The physician at the clinic sends a blood sample for a complete blood count (CBC) work-up and routine chemistries. Laboratory results are shown on this page.

Discussion

Hereditary elliptocytosis is a rare genetic disorder that affects the shape of red blood cells, leading to anemia and other complications. Elliptocytosis was first discovered by Dresbach in 1904 and the hereditary nature was recognized in 1934 by Hunter. This disorder is caused by mutation in genes encoding for proteins involved in maintaining the shape and flexibility of red blood cells. In HE the most common defect is the mutation in alpha or beta chains. Individuals who are heterozygous for an elliptocytic variant are asymptomatic, and individuals with the homozygous variant experience mild to severe anemia. The diagnostic criteria is more than 25 percent of elliptocytes in the peripheral smear.

The clinical presentation of hereditary elliptocytosis can vary from mild to severe anemia, jaundice, and splenomegaly. Some people with hereditary elliptocytosis may have no symptoms and may be diagnosed accidentally during routine blood work.

Diagnosis of hereditary elliptocytosis is usually made by peripheral smear examination which shows the characteristic elliptical or oval shape. Genetic testing can be used to confirm the diagnosis.

Conclusion

Hereditary elliptocytosis is a rare genetic disorder, mostly asymptomatic, that affects the shape of red blood cells. The diagnosis can be confirmed by peripheral smear examination.

Treatment for hereditary elliptocytosis is mainly supportive and involves iron and folic acid supplements to improve anemia. Blood transfusion when severe anemia exists is an alternative option. Genetic counseling may also be recommended for affected individuals and families to help understand the inheritance pattern and mitigate the prevalence of the condition.

References

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Mahesh Percy is an Instructor/Medical Technologist at St. George’s University in St. George’s, Grenada.

Alvin Billey is a Lecturer, Associate College Director at St. George’s University in St. George’s, Grenada.

Ewarld Marshall is Chair, Pathology at the Medical Pathology Diagnostic Lab Director at St. George’s University in St. George’s, Grenada.

This article was previously published by the Caribbean Association of Medical Technologists in their October 2023 BGM and Scientific magazine.

The peripheral smear examination showed elliptical or oval shaped red blood cells (more than 25 percent) with occasional polychromatic cells, spherocytes, and schistocytes. The findings suggest hereditary elliptocytosis.