Hereditary cryohydrocytosis with normal stomatin

Orpha code: 398088OMIM code: 185020

Definition

Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.

Disease data
Classification

Disease

ORPHA code
398088
OMIM code
185020
ICD10 code
D58.8
ICD11 code
-

No additional description.

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