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Erythroblasts with mitochondrial iron deposits
51%
81/159
Erythrocytes lacking central pallor
9%
15/159
Erythrocytes with a ring of relative pallor
7%
11/159
Hypochromatic erythrocytes
25%
40/159
Inclusions of denatured hemoglobin
2%
3/159
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The patient in this vignette is a chronic alcoholic with fatigue, glossitis, angular cheilitis, microcytic anemia, and increased free iron suggestive of sideroblastic anemia. Sideroblastic anemia is characterized by nucleated erythroblasts (sideroblasts) with peri-nuclear mitochondrial iron deposits. Sideroblastic anemia is a form of microcytic anemia caused by a defect in erythropoiesis. Specifically, a disorder in the heme synthesis pathway allows iron to enter the mitochondria even though it cannot be incorporated into heme molecules. As a result, iron remains stuck in mitochondria, forming a ring around cell nuclei. This can be seen on a bone marrow aspirate as ringed sideroblasts, which are hypochromic nucleated erythroblasts with peri-nuclear basophilic iron deposits, representing iron deposits in peripheral mitochondria. Common causes of sideroblastic anemia include chronic alcoholism, drugs (e.g., isoniazid), and genetic mutations in the heme synthesis pathway. Illustration A demonstrates the characteristic appearance of a ringed sideroblast. Note the perinuclear basophilic deposits which represent iron in peripheral mitochondria. Incorrect Answers: Answer 2: Erythrocytes lacking central pallor (spherocytes) are seen in hereditary spherocytosis. This is an autosomal dominant intrinsic hemolytic anemia caused by a defect in the erythrocyte membrane. It will often present with a normocytic hemolytic anemia in children. Answer 3: Erythrocytes with a ring of relative pallor (target cells) are seen in thalassemias. There are different forms and severities of thalassemias that often present with severe microcytic anemia. Answer 4: Hypochromatic erythrocytes (doughnut cells) are seen in iron deficiency anemia. This is an extremely common condition that may present with fatigue, pallor, tachycardia, glossitis, brittle nails, and microcytic anemia. Answer 5: Inclusions of denatured hemoglobin (Heinz bodies) are seen in erythrocytes in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked genetic disorder causing an intrinsic hemolytic anemia. Bullet Summary: Sideroblastic anemia will present with nucleated erythroblasts (sideroblasts) with peri-nuclear mitochondrial iron deposits on a bone marrow aspirate.
3.8
(4)
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