Question
An infant presents with mild anemia, jaundice, and splenomegaly. A complete blood count with differential reveals spherocytosis; thes cells count is elevated. The parents state that several relatives have also suffered from a similar illness.The infant’s condition is most likely caused by defective
A. Clathrin.
B. Connexon.
C. Dynein.
D. Spectrin.
Show Answer
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Correct Answer » D
Explanation
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These cells are reticulocyte.
Ans: D. Spectrin.
- In Hereditary Spherocytosis, intrinsic defects in erythrocyte membrane proteins result in RBC cytoskeleton instability.
- Loss of erythrocyte surface area leads to the production of spherical RBCs (spherocytes), which are culled rapidly from the circulation by the spleen.
The following four abnormalities in RBC membrane proteins have been identified in HS:
- Spectrin deficiency alone
- Combined spectrin and ankyrin deficiency
- Band 3 deficiency
- Protein 4.2 defects
