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13681 Pathology

A 25-year-old woman has a 3-year history of arthralgias. Physical examination shows no joint deformity, but she appears pale. Laboratory studies show a total RBC count of 4.7 million/ mm3, hemoglobin of 12.5 g/dL, hematocrit of 37.1%, platelet count of 217,000/ mm3, and WBC count of 5890/ mm3. The peripheral blood smear shows hypochromic and microcytic RBCs. Total serum iron and ferritin levels are normal. Hemoglobin electrophoresis shows 93% hemoglobin A1 with elevated hemoglobin A2 level of 5.8% and hemoglobin F level of 1.2%. What is the most likely diagnosis?

AAnemia of chronic disease
BAutoimmune hemolytic anemia
Cb-Thalassemia minor
DInfection with Plasmodium vivax
Pathology
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13685 Pathology

A 25-year-old man with a history of autism and mental retardation is seen by a genetic counselor. The man has coarse facial features, an increased head circumference, and macro-orchidism. His maternal uncle is similarly affected. After further evaluation, a diagnosis of fragile X syndrome is rendered. What is the most likely underlying cause of this patient’s genetic disease?

AChromosomal nondisjunction
BChromosome inversion
CExpansion of trinucleotide repeat
DFrame-shift mutation
Pathology
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