Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA the same disease, such as some forms of cancer, may be caused by a genetic condition in some people, by new mutations in other people, and mainly by environmental causes in other people. Whether, when and to what degree a person with the genetic flaw or irregularity will actually suffer from the disease is almost always affected by the environmental issues and events in the person's development. Minkowski–Chauffard syndrome or hereditary spherocytosis is an autosomal dominant irregularity of erythrocytes. Erythrocytes is a red blood cell that is typically a biconcave disc without a nucleus. The disorder is caused by mutations in genes connecting to membrane proteins that allow for the erythrocytes to change shape. The abnormal …show more content…
The clinical rigorousness of HS varies from symptom-free carrier to severe haemolysis because the disorder displays incomplete penetrance in its appearance. Indicators include anemia, jaundice, splenomegaly, and exhaustion. On a blood smear, Howell-Jolly bodies may be seen within red blood cells. The main treatment for patients with symptomatic HS has been total splenectomy, which eradicates the hemolytic process, allowing normal hemoglobin, reticulocyte and bilirubin levels. Treatment at this point, there exists no cure for the genetic defect that causes hereditary spherocytosis. Current organization focuses on interventions that limit the severity of the disease. Treatment options include Splenectomy. Splenectomy is treated with blood transfusions or exchanges and chronic symptoms of anemia and splenomegaly indicate dietary supplementation of folic acid and