Hemoglobinopathies

Case Studies


Section Editor

Susan Carson, RN, MSN, CPNP

Children’s Hospital Los Angeles


Featured Case Study

Pallor, Fatigue, and Heavy Menses in a Young Woman With Sickle Cell Disease

Presentation

Andrea is a 22-year-old woman with sickle cell disease type SS (SCD SS). She was previously receiving chronic blood transfusions due to a history of elevated blood flow velocity by transcranial Doppler (TCD) ultrasonography but was weaned and started on treatment with hydroxyurea last year. At that time, treatment with voxelotor (an orally available stabilizer of sickle cell hemoglobin, or HbS) was also initiated. Her other medications include deferiprone (for chelation of her transfusional iron overload) and folic acid. She has responded well to hydroxyurea, with a fetal Hb level of 31% of total hemoglobin and elevated mean corpuscular volume (MCV). Over the past few months of treatment with hydroxyurea, her Hb levels have typically been 7–8 g/dL.

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Case Study

Back Pain in a Young Man With Beta-Thalassemia Major

Presentation

Michael is a 20-year-old man with beta-thalassemia major. He has been receiving chronic blood transfusions since the age of 1 year. He was diagnosed...

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