A patient with a positive family history of Anemia and Splenectomy in the family presents with abundant spherocytes in the peripheral blood. All of the following statement are true regarding his condition, except
Correct Answer: Most common mode of inheritance is Autosomal Recessive
Description: Answer is C (Most common mode of inheritance is Autosomal Recessive) Presence of numerous Spherocytes in the blood together with a family history of Splenectomy suggests a possible diagnosis of Hereditary Spherocytosis. The most common mode of inheritance in Hereditary Spherocytosis is Autosomal Dominant (Classical Inheritance). Autosomal Recessive inheritance however may also be seen but is less common. Coomb's test is impoant to distinguish Hereditary Spherocytosis from Autoimmune haemolysis which is another common cause of Spherocytosis in the peripheral blood picture. Hereditary Spherocytosis is a coomb's negative haemolytic anemia (non-immune mediated) while Autoimmune haemolysis is Coomb's Positive Hereditary Spherocytosis is characterized clinically by anaemia, jaundice, splenomegaly and pigment gall stones. Cholecystectomy is often required in patients with HS due to repeated episodes of cholecystitis from pigment bile stones. Splenectomy remains the treatment of choice for moderate to severe cases of Hereditary Spherocytosis (Since Spleen is the primary site of destruction of red blood cells and transit through the splenic circulation makes them more spherocytic thereby accelerating their death.
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