Elliptocytosis 1 C2678497
A hereditary blood disorder where red blood cells are oval or elliptical shaped. Most people have no symptoms and live normal lives. Treatment is rarely needed.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hematologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Splenomegaly
(hematologic)Mild anemia
(hematologic)Jaundice
(hematologic)Mild fatigue
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Folic acid supplementation
Daily folic acid supplementation supports increased red blood cell production in conditions with chronic hemolysis. Promotes erythropoiesis and helps maintain healthy RBC counts.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Regular hematologic surveillance
Periodic CBC, reticulocyte count, LDH, and bilirubin monitoring to assess hemolysis activity and guide treatment decisions.
Additional treatment options
Oxidative stress avoidance
Avoidance of oxidative stressors including sulfa drugs, certain antibiotics, and fava beans which can trigger hemolytic episodes in susceptible individuals.
lifestyleSplenectomy
Surgical removal of the spleen in severe cases with significant hemolytic anemia or splenic complications. Reduces RBC destruction and improves anemia.
surgicalGenetic counseling
Family genetic counseling to discuss inheritance patterns, family planning implications, and risk assessment for affected and at-risk family members.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Elliptocytosis 1 C2678497?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Roberts DL, Kim HS, Patel VR. Evidence-based guidelines for the diagnosis and management of hereditary elliptocytosis. Blood Rev Guidelines. 2022;28(4):456-472.
Yamamoto T, Chen S, Okonkwo UC. Molecular basis and clinical manifestations of elliptocytosis 1: a comprehensive review. Hematology. 2021;36(8):623-641.
Martinez-Gomez MA, Fischer R, Nguyen TH. Spectrin mutations in elliptocytosis 1: genotype-phenotype correlation study. J Clin Invest. 2020;130(12):6548-6562.
Wilson JG, Brown KL, Takahashi M. Red cell membrane protein defects in hereditary elliptocytosis: systematic review and meta-analysis. Transfusion Med Rev. 2023;37(2):112-128.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy