Hereditary cryohydrocytosis with normal stomatin
Name: |
Hereditary cryohydrocytosis with normal stomatin
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Description: |
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.
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ORPHAcode: |
398088
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XREF(s): | |
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Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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