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Homozygous α‐thalassemia: Challenges surrounding early identification, treatment, and cure
Author(s) -
Pecker Lydia H.,
Guerrera Michael F.,
Loechelt Brett,
Massaro An,
Abraham Allistair A.,
Fasano Ross M.,
Meier Emily Riehm
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26163
Subject(s) - medicine , thalassemia , pediatrics , hematopoietic stem cell transplantation , intensive care medicine , surgery , transplantation
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.