What are the key symptoms of hereditary spherocytosis at a cellular level and how does this cause loss of membrane integrity?

I have hereditary spherocytosis which caused me to have a splenectomy in order to treat the symptoms. This condition makes your cells spherical, and the body breaks down these abnormal cells faster. The main physiological symptoms being jaundice, anemia and fatigue. However, I learned a couple years back that I wasn't allowed to dive. (I was trying to become a diver) When I got DQ because of this I had no idea because when I got my spleen removed, I had no other symptoms. Until I did some research. The cause of this disease is by a genetic mutation that results in in one or more proteins involved in maintaining adequate adherence between the cytoskeleton and bilipid membrane. The proteins may include spectrin, ankyrin, band 3, and band 4.2. This results to unstable cell membranes and the reason I'm not allowed to dive because the increased pressure could rupture my blood cells. I also just learned that Spherocytes have an abnormal ionic permeability that increases the influx of sodium into the intracellular space, which increases ATP requirements as the activity of the Na/K pump increases to compensate for the rise in intracellular sodium. (Edgar, 2023) Treatment is usually removal if spleen but is usually centers around improving quality of life.

source

• https://www.ncbi.nlm.nih.gov/books/NBK539797/

  Academic Journal | DOI https://www.ncbi.nlm.nih.gov/books/NBK539797/