hereditary elliptocytosis
MeSH: D004612ORPHA: 2881 Treatment Available
Overview
hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| eculizumab Orphan Cold Chain | IV infusion, 10mg/mL concentrate for solution | FDA Approved, EMA Approved | 9 | 14d |
Clinical Presentation
Signs and symptoms associated with hereditary elliptocytosis, sourced from HPO and Orphanet clinical annotations.
Abnormal erythrocyte morphologyElliptocytosisIncreased red cell osmotic fragilityJaundiceSplenomegalyHemolytic anemiaReticulocytosisHyperbilirubinemiaNeonatal hyperbilirubinemiaExercise intoleranceStomatocytosisPoikilocytosisCongenital hemolytic anemiaProlonged neonatal jaundiceFatigueSkin ulcerCholelithiasisHydrops fetalisFeverFrontal bossingAbdominal painPostnatal growth retardationChills
Classification & Codes
MeSH Code
D004612Orphanet Code
ORPHA:288hereditary elliptocytosis
| MeSH | D004612 |
| Orphanet | ORPHA:288 |
| Treatments | 1 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO