WBR0471
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| Author | [[PageAuthor::Yazan Daaboul, M.D. (Reviewed by Yazan Daaboul, M.D. and Alison Leibowitz [1])]] |
|---|---|
| Exam Type | USMLE Step 1 |
| Main Category | Pathology |
| Sub Category | Hematology |
| Prompt | A 12-year-old African-American boy with a history of beta-thalassemia major is brought to the physician's office for bone marrow transplantation (BMT) work-up. The patient Liver biopsy is performed to calculate Pesaro class risk for the patient prior to BMT. Which of the following findings is most likely observed on liver biopsy? |
| Answer A | Hepatocyte accumulation of copper |
| Answer A Explanation | [[AnswerAExp::The accumulation of cupper frequently occurs in Wilson's disease.]] |
| Answer B | Hepatocyte accumulation of iron |
| Answer B Explanation | The accumulation of iron frequently occurs following recurrent transfusions, administered to patients with thalassemia major or hemochromatosis. |
| Answer C | Hepatocyte accumulation of lead |
| Answer C Explanation | Lead does not frequently accumulate in the livers of individuals with thalassemia major. |
| Answer D | Hepatocyte accumulation of calcium |
| Answer D Explanation | Thalassemia major is not associated with calcium accumulation. |
| Answer E | Hepatocyte accumulation of lipids |
| Answer E Explanation | [[AnswerEExp::Hepatic steatosis, or accumulation of lipids in the liver, is associated with chronic alcoholism.]] |
| Right Answer | B |
| Explanation | [[Explanation::Beta-thalassemia major is an inherited hemoglobinopathy characterized by the absent production of a beta-globin chain of the hemoglobin tetramer. It commonly results from a point mutation in splice sites or promoter sequences. Beta-thalassemia major manifests as severe anemia and subsequent ineffective erythropoiesis, which eventually cause bone marrow expansion. The majority of cases of Beta-thalassemia major are reported in the Mediterranean region, Africa, and Southeast Asia. In individuals with beta-thalassemia major, chronic red cell transfusions are considered the optimal therapy for symptomatic management. However, repeated transfusions are associated with iron overload, which requires the administration of iron-chelating therapy, frequently with deferoxamine. Bone marrow transplant is the only cure for patients with beta-thalassemia major. Pesaro classification, a detailed pre-BMT evaluation often used to predict outcomes following transplant, evaluates three independent risk factors: Hepatomegaly on physical examination, portal fibrosis on liver biopsy, and adequacy of iron chelation. Educational Objective: Beta-thalassemia major, a hematological inherited disorder, is characterized by the absent or reduced production of beta-chains of hemoglobin proteins. Recurrent red cell transfusions, a symptomatic treatment, are associated with iron accumulation, which necessitates the administration of iron-chelation therapy. |
| Approved | Yes |
| Keyword | Beta-thalassemia, Mediterranean, inherited, Liver, Hepatocyte, Iron accumulation, Deferoxamine, Bone marrow transplant, Pesaro, Transfusions, BMT |
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