Question

Trevor is a 20-year-old male presenting with a history of fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). An examination of his blood reveals his red blood cells have an abnormal elliptical shape which causes premature damage and rupture of the cells. Trevor is diagnosed with a genetic disease, Hereditary elliptocytosis. The disease is caused by mutations in some of the proteins of the membrane skeletal network responsible for the stability of the red blood cell. What organelle is defective in Trevor's red blood cells?

Answer 1

These cells are also characterized by having no nucleus, being devoid of organelles. So no organelles are missing from trevor's red cells.

What is Hereditary elliptocytosis?

Hereditary spherocytosis and elliptocytosis are congenital disorders of the erythrocyte membranes that cause mild hemolytic anemia. Symptoms, usually milder in hereditary elliptocytosis, include varying degrees of

• Anemia
• Jaundice
• and Splenomegaly.

Diagnosis requires demonstration of increased osmotic fragility of erythrocytes and a negative direct antiglobulin test. Rarely, patients < 45 years of age with symptomatic disease require splenectomy.

With this information, we can conclude that the red cells of Trevor do not have organelles, a fact that is not altered by their condition (Hereditary elliptocytosis).

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