Elliptocyte
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Elliptocyte | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Anemia, fatigue, jaundice |
| Complications | Splenomegaly, gallstones |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in spectrin, protein 4.1, or glycophorin C |
| Risks | Family history of hereditary elliptocytosis |
| Diagnosis | Blood smear, genetic testing |
| Differential diagnosis | Hereditary spherocytosis, iron deficiency anemia |
| Prevention | N/A |
| Treatment | Folic acid supplementation, splenectomy |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | 1 in 2,000 to 4,000 individuals |
| Deaths | N/A |
Elliptocyte is a type of red blood cell that is elliptical rather than the typical biconcave disk shape. Elliptocytes are seen in various conditions, most notably in a condition known as hereditary elliptocytosis.
Introduction
Elliptocytes are oval or elliptical in shape, hence the name. They are also known as ovalocytes. These cells are typically seen in a blood smear of individuals with hereditary elliptocytosis, a genetic disorder. However, they can also be seen in other conditions such as iron deficiency anemia, thalassemia, and myelofibrosis.
Hereditary Elliptocytosis
Hereditary elliptocytosis is a blood disorder in which a large number of elliptocytes are present in the blood. This condition is caused by mutations in the genes that provide instructions for making proteins found in red blood cells. These mutations lead to abnormalities in the red blood cell membrane, causing the cells to become elliptical.
Diagnosis
The presence of elliptocytes can be confirmed by a peripheral blood smear test. In this test, a sample of the patient's blood is examined under a microscope. The elliptical shape of the red blood cells can be clearly seen in this test.
Treatment
The treatment for conditions that cause the presence of elliptocytes in the blood depends on the underlying condition. For example, in the case of hereditary elliptocytosis, treatment may not be necessary unless the condition is severe. In severe cases, a blood transfusion may be required.
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Contributors: Prab R. Tumpati, MD