Nirmish Shah, MD, Director of the Sickle Cell Transition Program at Duke University talks about some of the strategies they employ to help patients with sickle cell disease and beta-thalassemia transition from pediatric to adult care. 

Dr. Shan noted that transition actually begins in the early teens and continues until the patient reaches adulthood.

Sickle cell disease and thalassemia are rare bleeding disorders that require continuous care. 

Sickle cell disease is a group of genetic blood disorders that alters the red blood cells. People with this condition have abnormal hemoglobin that results in their red blood cells being fragile, sticky and crescent-shaped (i.e., sickle shaped). In addition to the chronic anemia that afflicts these patients, the sickle-shaped cells often get stuck in smaller vessels and that can lead to a plethora of problems, including pain crises, spleen complications. 

Beta-thalassemia is a genetic disorder involving the HBB gene that leads to reduced or absent synthesis of the beta-chains of hemoglobin. The more severe form of the condition, beta-thalassemia major, is usually diagnosed in infancy with symptoms of severe anemia, failure to thrive and progressive pallor. Treatment usually involves regular transfusions to correct anemia and suppress erythropoiesis. Iron chelation is also a standard of care once persons have had 10-15 transfusions or when ferritin levels are above 1000 ng/ml.

To learn more about these diseases, visit https://checkrare.com/diseases/hematologic-disorders/

 

 

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