Hemoglobinopathies
Case Studies
Section Editor
Susan Carson, RN, MSN, CPNP
Children’s Hospital Los Angeles
Featured Case Study
Adrenal Insufficiency and Iron Overload in Thalassemia Patients: A Hidden Danger When Managing Infections
Johnny is a 29-year-old male with beta-thalassemia major, for which he has received chronic transfusions since infancy. He had undergone splenectomy in childhood. He has a history of allergic reaction to deferoxamine and was not treated with chelation therapy for many years during his childhood. He is now on full-dose combination therapy with deferiprone and deferasirox for management of severe iron overload. His most recent magnetic resonance imaging (MRI) results indicate severe hepatic and pancreatic and cardiac iron overload, with a normal ejection fraction. He has a high transfusion burden every 2 weeks, due to issues with multiple types of red cell antibodies. He has a port-a-cath in place for IV access, and treatment with luspatercept was recently initiated in an attempt to reduce his transfusion burden. Johnny is being followed by endocrinology specialists to monitor for hypogonadism and glucose intolerance secondary to iron overload.
Right Upper Quadrant Pain in a Young Man With Sickle Cell Disease
Presentation and History
Steven is a 21-year-old young man with sickle cell disease (SCD)-SC. He is here today to see you for routine follow-up. He has historically been seen every 6 months for routine maintenance and was not having frequent vaso-occlusive crises (VOC) until recently. He has presented to the emergency department 3 times in the past 2 months with a painful crisis. His most recent episode was 5 days ago, and he has just been tapered off of oxycodone.
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.
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...
