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: References: ]]
Approved	Approved::No
Keyword	WBRKeyword::Sideroblastic anemia, WBRKeyword::Sideroblasts, WBRKeyword::ALA synthase mutation
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::