title: Homozygous α-thalassemia: Challenges surrounding early identification, treatment, and cure.
abstract: The prognosis for homozygous α-thalassemia is changing. Prenatal diagnosis and intrauterine transfusions (IUT) reduce maternofetal morbidity and mortality; hematopoietic stem cell transplant (HSCT) is curative. Empiric evidence to support IUT and HSCT to treat homozygous α-thalassemia is lacking. The first case of curative HSCT for homozygous α-thalassemia was reported in 1997. Nearly 20 years later, five additional reports are published. We review the literature and report an institutional experience with three homozygous α-thalassemia patients. The first died shortly after birth. The second underwent HSCT after years of chronic transfusion therapy. The third benefited from IUT and HSCT. These cases exemplify the varied outcomes associated with this condition.
authors: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia.|Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
authors: Lydia H
authors: LH
authors: Pecker
authors: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia.|Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
authors: Michael F
authors: MF
authors: Guerrera
authors: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia.
authors: Brett
authors: B
authors: Loechelt
authors: Division of Neonatology, Children's National Health Systems, Washington, District of Columbia.
authors: An
authors: A
authors: Massaro
authors: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia.|Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
authors: Allistair A
authors: AA
authors: Abraham
authors: Center for Transfusion and Cellular Therapies, Department of Pathology and Laboratory Medicine, School of Medicine, Emory University, Atlanta, Georgia.
authors: Ross M
authors: RM
authors: Fasano
authors: Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana.
authors: Emily Riehm
authors: ER
authors: Meier
mesh_terms: D001803:Blood Transfusion; D001805:Blood Transfusion, Intrauterine; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011379:Prognosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000628:therapy*
keywords: hematopoetic stem cell transplant; hemolytic anemias; iron overload