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A 32 -year-old female patien t is seen in the hematology clinic for evaluation after her 6-year-old son was found to have abnormal blood cells. The pediatrician advised her to see a hematologist because her son may have a fami lial disorder. Nei ther the mother nor the son had any health problems. The patien t's physical exam is normal. Labora-tory studies show a leukocyte count of 9,600/JLL, hemoglobin of 1 LJ.3 g/d l, and platelet cou nt of 2 59,000/JLL. The peripheral smear is shown below.
What is the genetic aberration responsible for the Pelger-Huet anomaly?
- Mutation in the lamin B receptor
- Mutation in the concanavalin-A receptor
- Mutation in the spectrin gene
- Mutation in the protein 4.1 gene
Medicine
A. A mutation in the lamin B receptor on chromosome 1 underlines the pathogenesis of familial Pelger-Huet anomaly. Mutations in the concanavalin-A receptor are implicated in Shwachman-Diamond syndrome. Spectrin abnormalities are part of the defect in hereditary spherocytosis and elliptocytosis, and protein 4.1 is similarly related to hereditary elliptocytosis.
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