dehydrated hereditary stomatocytosis

ORPHA: 3202

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with dehydrated hereditary stomatocytosis, sourced from HPO and Orphanet clinical annotations.

Hemolytic anemiaNonspherocytic hemolytic anemiaIncreased red cell osmotic fragilityCholelithiasisSplenomegalyReticulocytosisMacrocytic anemiaSchistocytosisIncreased circulating ferritin concentrationIncreased total bilirubinAbnormal circulating potassium concentrationIncreased circulating lactate dehydrogenase concentrationHypochromiaEdemaIntermittent jaundiceThromboembolismAbdominal painNeonatal hyperbilirubinemiaCongenital hemolytic anemiaIncreased mean corpuscular volumeAnemia of inadequate productionEpisodic fatigueIncreased mean corpuscular hemoglobin concentrationPolycythemiaPortal vein thrombosisPulmonary venous hypertensionIncreased circulating hemoglobin concentration

Classification & Codes

Orphanet Code

ORPHA:3202
dehydrated hereditary stomatocytosis
OrphanetORPHA:3202
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO