Red Cell Membrane Disorders in Pediatrics

During its 120-day life span, a red cell (RBC) circulates 1 million times in a human’s body, often squeezing through narrow capillaries. The erythrocyte’s remarkable mechanical properties originate from its unique cell wall architecture. RBCs must possess adequate mechanical strength to withstand the shearing forces encountered in the circulation and should remain flexible enough to traverse microcapillaries with diameters smaller than that of the RBC itself, as in the splenic circulation. Thus, deformability is one of the major characteristics of the red cell membrane.ABOUT THE AUTHORSAchille Iolascon, MD, PhD; Carmelo Piscopo, MD; and Loredana Boschetto, PhD, are with the Departments of Medical Genetics and Department of Biochemistry and Medical Biotechnologies, University Federico II of Naples, Italy, and CEINGE — Scarl Naples.Address correspondence to: Achille Iolascon, MD, PhD, Dept. of Biochemistry and Medical Biotechnologies, University Federico II of Naples, CEINGE — Advanced Biotechnologies, Via Comunale Margherita 482, 80145 Naples, Italy; fax 39-081-373-7804; www.ceinge.unina.it; or email: iolascon@ceinge.unina.it.Dr. Iolascon, Dr. Piscopo, and Dr. Boschetto have reported no relevant financial relationships.This article has been supported by the Italian Ministero dell’Università e della Ricerca, project PS 35-126/IND, by Telethon (Italy), and by PRIN – MIUR, Rome.EDUCATIONAL OBJECTIVESIdentify the clinical features of various red cell membrane disorders and their respective specific mutations.Describe the tests necessary for reaching an accurate diagnosis in red cell membrane disorders.Discuss treatment guidelines for children with red cell membrane disorders.