WBR0471

Author	[[PageAuthor::Rim Halaby, M.D. [1] (Reviewed by Alison Leibowitz)]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Pathology
Sub Category	SubCategory::Hematology
Prompt	[[Prompt::A 12-year-old African male, with a history of beta-thalassemia major, is brought to the physician's office for a routine bone marrow transplantation (BMT) work-up. Prior to BMT, liver biopsy is performed to calculate Pesaro class risk for the patient. Which of the following findings is most likely observed upon liver biopsy?]]
Answer A	AnswerA::Hepatocyte accumulation of copper
Answer A Explanation	[[AnswerAExp::The accumulation of cupper frequently occurs in Wilson's disease.]]
Answer B	AnswerB::Hepatocyte accumulation of iron
Answer B Explanation	AnswerBExp::The accumulation of iron frequently occurs following recurrent transfusions, administered to patients with thalassemia major or hemochromatosis.
Answer C	AnswerC::Hepatocyte accumulation of lead
Answer C Explanation	AnswerCExp::Lead does not frequently accumulate in the livers of individuals with thalassemia major.
Answer D	AnswerD::Hepatocyte accumulation of calcium
Answer D Explanation	AnswerDExp::Thalassemia major is not associated with calcium accumulation.
Answer E	AnswerE::Hepatocyte accumulation of lipids
Answer E Explanation	[[AnswerEExp::Hepatic steatosis, or accumulation of lipids in the liver, is associated with chronic alcoholism.]]
Right Answer	RightAnswer::B
Explanation	[[Explanation::Beta-thalassemia major, an inherited hematological disorder, is characterized by the reduced (or absent) production of a beta-globin chain of hemoglobin proteins, resulting from a point mutation in splice sites or promoter sequences. It manifests as severe anemia, and subsequent ineffective erythropoiesis, which eventually cause bone marrow expansion. Cases of Beta-thalassemia major are often 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 relieving symptoms. Repeated transfusions are associated with iron overload, requiring the administration of iron-chelating therapy, frequently with deferoxamine. Bone marrow transplant is considered 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. References: Lucarelli G, Galimberti M, Polchi P, et al. Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Eng J Med. 1993;329:840-4.]]
Approved	Approved::Yes
Keyword	WBRKeyword::Beta-thalassemia, WBRKeyword::Mediterranean, WBRKeyword::inherited, WBRKeyword::Liver, WBRKeyword::Hepatocyte, WBRKeyword::Iron accumulation, WBRKeyword::Deferoxamine, WBRKeyword::Bone marrow transplant, WBRKeyword::Pesaro, WBRKeyword::Transfusions, WBRKeyword::BMT
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::