Mary Richards Is Pale

Abstract

Abstract Introduction This is a problem-based learning (PBL) case in biochemistry and molecular biology suitable for either first- or second-year students. As a PBL case, it uses progressive discovery and students are meant to research and discuss issues, concepts, and facts on their own. Methods This is a case of a young woman who presents with a pale appearance for her first prenatal visit. She is found to be mildly anemic and to have a slightly enlarged spleen and higher-than-normal hemoglobin alpha 2 (HbA) level. She and her husband are of Mediterranean descent. The husband also has a higher-than-normal HbA level. A diagnosis of heterozygous beta thalassemia is made. The couple decides against testing of the fetus. A normal female child is delivered who does well until 8 months when severe problems appear. The child is severely anemic with very low HbA, and a very high fetal hemoglobin level. A diagnosis of beta thalassemia is made and a blood transfusion is given to bring the hemoglobin and hematocrit back to near normal. The parents are advised that the child will need frequent transfusions and that the prognosis for a normal life is poor. Genetic analysis on the child's beta globin gene reveals the creation of a new splice site in the small intron of the gene. Results This case has been very effective in the past; both helping students understand hemoglobin structure/function and basic molecular biology concepts while tackling a real-life medical problem. Discussion Beta thalassemia is common in northwest Indiana because of so many people in the area of Mediterranean origin. Students see thalassemia patients when they visit their preceptors which reinforce what they learn in the PBL case. It has been learned that thalassemia is a complex disorder and that there are a number of different forms that range from asymptomatic to lethal.

Keywords

• Anemia
• Total Iron Binding Capacity
• Hematocrit
• Hemoglobin Electrophoresis
• Beta Thalassemia
• Blood Transfusion