The spleen effectively removes these crystal-containing cells. Some cases may not be diagnosed until adulthood. Continued hemolysis may produce pigmented gallstones, an unusual type of gallstone composed of the dark-colored contents of red blood cells. The cause of pigment stones is uncertain. This condition primarily occurs in patients of African ancestry but also has been reported in people of Hispanic and Sicilian ancestry.
Symptoms can include musculoskeletal pain, cholelithiasis, retinopathy, and dental infarction.
Some patients may complain of joint pains. Retinopathy may manifest as angioid streaks, which are a clinical manifestation of breaks in a brittle Bruch membrane. The streaks appear as jagged, reddish brown subretinal lines that taper from the optic nerve. Chronic hemolysis causes iron deposition in the Bruch membrane. When this membrane breaks or cracks, choriocapillaries are disrupted and photoreceptor cells are lost.