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Macrocytic red blood cells
3%
10/371
Hyperchromic red blood cells
4%
15/371
Microcytic red blood cells
81%
300/371
Bite cells
16/371
Ringed sideroblasts
6%
24/371
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The patient in the vignette has B-thalassemia intermedia, which will have increased HbF and HbA2, and results in a microcytic anemia. Beta thalassemia intermedia is caused by a mutation in the Kozak consensus sequence of the Beta globin gene on chromosome 11. A blood smear in patients would demonstrate that RBCs are microcytic and hypochromic due to underproduction of normal B-chain, and therefore underproduction of normal adult hemoglobin. Beta thalassemia intermedia has variable degrees of severity of symptoms, and only requires episodic blood transfusions. Illustration A shows a blood smear of a microcytic, hypochromic anemia. Incorrect Answers: Answer 1: Macrocytic RBCs are often due to folate or B12 deficiency. Answer 2: Hyperchromic RBCs are often found in B12 deficiency or pernicious anemia. Answer 4: Bite cells are a feature of G6PD deficiency. Answer 5: Ringed sideroblasts are seen in alcohol, lead poisoning, or a hereditary x-linked deficit in ALA synthase.
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