An 8-month-old girl is brought to the clinic by her mother for posthospitalization follow-up. She was admitted and discharged last week due to fatigue and anemia requiring transfusion of packed red blood cells. Since going home, the patient has had no issues. On examination, she is alert and interactive. Cardiopulmonary examination is unremarkable. The spleen is palpated 2 cm below the costal margin. Hemoglobin electrophoresis performed prior to her initial transfusion shows 5% hemoglobin A2 and 95% hemoglobin F. Her mother asks about the long-term outcome. It is discussed that the patient will need chronic red blood cell transfusions to maintain her hemoglobin at an appropriate level, but individuals are now able to survive into the fifth and sixth decades of life with supportive management. In addition to chronic transfusions, the patient will require which of the following supportive medications to improve long-term survival?

Question

An 8-month-old girl is brought to the clinic by her mother for posthospitalization follow-up.  She was admitted and discharged last week due to fatigue and anemia requiring transfusion of packed red blood cells.  Since going home, the patient has had no issues.  On examination, she is alert and interactive.  Cardiopulmonary examination is unremarkable.  The spleen is palpated 2 cm below the costal margin.  Hemoglobin electrophoresis performed prior to her initial transfusion shows 5% hemoglobin A2 and 95% hemoglobin F.  Her mother asks about the long-term outcome.  It is discussed that the patient will need chronic red blood cell transfusions to maintain her hemoglobin at an appropriate level, but individuals are now able to survive into the fifth and sixth decades of life with supportive management.  In addition to chronic transfusions, the patient will require which of the following supportive medications to improve long-term survival?

Quizplus · Accepted Answer

11ec25c8_d6af_e0a7_bc81_93f4f89133c1_MD0003_00 This patient's hemoglobin electrophoresis results are consistent with beta-thalassemia. Mutations in both beta globin genes result in absent beta globin expression, known as beta-thalassemia major. Instead of the two alpha and two beta chains that typically compose hemoglobin A, patients have increased hemoglobin F (two alpha and two gamma chains) and hemoglobin A2 (two alpha and two delta chains). Since fetal hemoglobin (HbF) predominates in the first few months of life until adult hemoglobin (HbA) is synthesized, beta thalassemia major is generally asymptomatic in the newborn period. Patients around age 6-12 months develop fatigue and pallor due to microcytic anemia. Splenic hemolysis of red blood cells (RBCs) can cause jaundice, dark urine, and splenomegaly. If left untreated, patients can develop skeletal abnormalities due to extramedullary hematopoiesis. synthesized Beta-thalassemia major is transfusion-dependent. The additional iron from transfused RBCs increases the risk for iron overload. Chelation therapy is required to avoid damage to the liver, kidneys, and endocrine glands and improve survival. (Choice B) Hydroxyurea therapy increases HbF in patients with sickle cell disease (by inducing a change in gene expression at the beta globin locus), thereby reducing the relative concentration of hemoglobin S and minimizing complications caused by sickling. (Choice C) Iron supplementation should be avoided in patients with beta-thalassemia as they are at risk for iron overload given their need for transfusions. (Choice D) Penicillin prophylaxis is required for anatomic or functional asplenia due to increased risk of infection with encapsulated organisms. Patients with beta-thalassemia have a functioning spleen. (Choice E) Vitamin B12 deficiency causes macrocytic anemia and is more common in patients with a vegan diet. Educational objective: Beta-thalassemia major is characterized by increased hemoglobin A2 and hemoglobin F on electrophoresis due to absent beta globin expression. Patients are transfusion-dependent and at risk for iron overload. Therefore, chelation therapy is required to improve survival. References: Clinical monitoring and management of complications related to chelation therapy in patients with beta-thalassemia. (http://www.ncbi.nlm.nih.gov/pubmed/26613264)

An 8-Month-Old Girl Is Brought to the Clinic by Her