WBR0097
Author | PageAuthor::William J Gibson |
---|---|
Exam Type | ExamType::USMLE Step 1 |
Main Category | MainCategory::Genetics, MainCategory::Histology |
Sub Category | SubCategory::Hematology |
Prompt | [[Prompt::A 3 week old newborn is brought into the pediatric emergency department by his mother for colic and the appearance of jaundice of the past several days. On physical exam, the child’s spleen is readily palpable. Laboratory values reveal hyperbilirubinemia, and decreased RBC count. A blood smear from the child is shown below. Which of the following is the most likely cause of this child’s condition?]] |
Answer A | AnswerA::Mutation of glutamic acid to valine in the Beta globin gene |
Answer A Explanation | AnswerAExp:: |
Answer B | AnswerB::Mutation of three copies of the alpha-globin gene |
Answer B Explanation | AnswerBExp:: |
Answer C | AnswerC::Mutation of ankyrin |
Answer C Explanation | AnswerCExp:: |
Answer D | AnswerD::Mutation of spectryin |
Answer D Explanation | AnswerDExp:: |
Answer E | AnswerE::Nonsense mutation in the beta-globin gene |
Answer E Explanation | AnswerEExp:: |
Right Answer | RightAnswer::C |
Explanation | [[Explanation::The patient in this vignette is most likely suffering from hereditary spherocytosis. {{#!: References: First Aid page 90, 379, 384
Educational Objective: Hereditary spherocytosis is caused by mutations in the ankyrin and spectrin genes. Ankyrin mutations are the more common of the two. |
Approved | Approved::Yes |
Keyword | |
Linked Question | Linked:: |
Order in Linked Questions | LinkedOrder:: |