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Hereditary Xerocytosis Overview
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Lara Sullivan, MD, President and Founder at SpringWorks Therapeutics discusses Hereditary Xerocytosis, a genetic disorder in which red blood cells become dehydrated due to loss of potassium and cell water. Dehydration is mediated by a potassium channel (Gardos or KCNN4) which is either genetically abnormal or activated by mutations in another channel (PIEZO1). The fragility of the red cells can lead to a ranging severity of anemia; in some cases, it will lead to severe anemia that requires frequent blood transfusions. Hereditary xerocytosis is also associated with jaundice, fatigue, splenomegaly (swelling of the spleen), and gallstones.

There is no approved therapy for this disease. - Affects an estimated 1 out of 10,000 people - Symptoms may begin shortly after birth - Only one parent needs to have the mutated gene for a 50% chance of passing it on to a child

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