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Sickle cell trait
7%
24/332
Alpha thalassemia major with Hb Bart's
8%
28/332
Beta-thalassemia minor
67%
222/332
Beta-thalassemia major
14%
45/332
Diabetes mellitus
2%
5/332
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The hemoglobin electrophoresis profile is characteristic of a patient with beta-thalassemia minor. Hemoglobin is comprised of two proteins: alpha and beta globin. A defect in the production of either gene can produce variable phenotypes. Beta-thalassemias are a group of inherited blood disorders in which individuals have a defect in the gene that produces beta globin. Patients with beta-thalassemia minor bear a mutation in only one allele of their beta globin gene, thus they are still able to produce some normal hemoglobin, which is why hemoglobin electrophoresis shows a decreased fraction of HbA2 and an increased fraction of HbA. Incorrect Answers: Answer 1: Carriers of sickle cell trait show the following pattern on hemoglobin electrophoresis: 52% HbA, 1% HbF, 45% HbS, 2% A2. Answer 2: Infants with Hb Barts develop hydrops fetalis and die before or shortly after birth. Answer 4: Patients with beta-thalassemia major do not synthesize HbA. Answer 5: Diabetes mellitus causes an increase in HbA1c (glycosylated hemoglobin).
4.1
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