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A 14-year-old female complains to her pediatrician of fatigue and occasional yellowish discoloration to her skin. She has marked splenomegaly. Laboratory studies are obtained, leukocytes 3.4 / mm3, hematocrit 30%, hemoglobin 9.6 g/dL, MCV 90 fL, MCHC 45%, platelets 250,000 / uL. Peripheral smear demonstrates spherocytes. Which of the following abnormal proteins is most likely the cause of this patient’s signs and symptoms?

A- a - globin
B- Ankyrin
C- ß - globin
D- Protein 4.2
E- Spectrin
 

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Although ankyrin, spectrin and protein 4.2 are all involved in the pathogenesis of herediatery spherocytosis, the most common among them is spectrin deficiency. Spectrin deficiency is hereditary in autosomal dominant fashion and the impact on RBCs is elevated osmotic fragility. It is one of the absolute indications of total splenectomy, a procedure that is therapeutic (although in children the current trend is partial splenectomy, due to the complications following this procedure). These patients should receive the appropriate prophylaxis after splenectomy.
 
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