WBR0485
| Author | [[PageAuthor::Rim Halaby, M.D. [1]]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Pathology, MainCategory::Pathophysiology |
| Sub Category | SubCategory::Hematology |
| Prompt | [[Prompt::An 18 month old boy was brought to an outpatient hematology department with complaints of pallor since birth. The child had a history of several hospital admissions for severe pallor and had been receiving blood transfusions every couple of months as of 2 months of age. History was negative for fever, bleeding, or jaundice. He had met all his milestones and was developing normally. The patient's family had recently migrated from Pakistan, and the mother denies any similar manifestations in the family. On physical exam, the physician notices pallor, frontal bossing, and hepatomegaly 4 cm below the costal margin. Exam was negative for icterus, lymphadenopathy, cyanosis, or clubbing. Blood work-up is significant for anemia (Hb= 6.7 g/dL) and the findings on blood smear shown below. What is the most likely mutation associated with the patient's condition?]] |
| Answer A | AnswerA::HbA Alpha-chain mutation |
| Answer A Explanation | AnswerAExp:: |
| Answer B | AnswerB::HbA Beta-chain mutation |
| Answer B Explanation | AnswerBExp:: |
| Answer C | AnswerC::Delta-ALA synthase mutation |
| Answer C Explanation | AnswerCExp:: |
| Answer D | AnswerD::Spectrin and Ankyrin mutations |
| Answer D Explanation | AnswerDExp:: |
| Answer E | AnswerE::Glucose-6-Phosphate Dehydrogenase mutaion |
| Answer E Explanation | AnswerEExp:: |
| Right Answer | RightAnswer::C |
| Explanation | [[Explanation:: Educational Objective: |
| Approved | Approved::No |
| Keyword | WBRKeyword::Sideroblastic anemia, WBRKeyword::Sideroblasts, WBRKeyword::ALA synthase mutation |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |