Close
Close
Hereditary Xerocytosis Overview
278 views
3.09090909091
3.1 from 22 votes

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

Learn more about:

Access Programs

by Abidemi Uruejoma
11 views 4 days ago
by Abidemi Uruejoma
25 views 1 week ago
by Abidemi Uruejoma
92 views 1 month ago
by Abidemi Uruejoma
62 views 1 month ago
by Abidemi Uruejoma
92 views 1 month ago
3.09090909091
3.1 from 22 votes
Free Newsletter
Find a Clinical Trial
Trending videos
by Abidemi Uruejoma
29,014 views
by Christine DuBois
23,603 views
by Abidemi Uruejoma
21,436 views