Hereditary cryohydrocytosis with normal stomatin

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

Newly diagnosed with
Hereditary cryohydrocytosis with normal stomatin?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.