1 MCQs in Pathology for NEET PG
A 22-year-old man presents with progressive fatigue, pallor, and bronze skin pigmentation. CBC shows microcytic hypochromic anemia (Hb 8.0 g/dL, MCV 72 fL) with basophilic stippling and dimorphic red cell population. Bone marrow Prussian blue stain reveals ringed sideroblasts (>15% of erythroid precursors). Serum ferritin is markedly elevated at 1,800 ng/mL with transferrin saturation of 95%. Genetic testing reveals a hemizygous missense mutation in the gene located on the structure marked **A** in the diagram. Which of the following best describes the pathophysiologic consequence of this mutation?
Ready to test yourself?
Test your Pathology knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Sideroblastic Anemia (ALAS2, X-linked) MCQs with AI-powered explanations tailored to your performance.
Create Free Account