Homozygous α‐thalassemia: Challenges surrounding early identification, treatment, and cure

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. Th...

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Bibliographic Details
Published in:Pediatric blood & cancer 2017-01, Vol.64 (1), p.151-155
Main Authors: Pecker, Lydia H., Guerrera, Michael F., Loechelt, Brett, Massaro, An, Abraham, Allistair A., Fasano, Ross M., Meier, Emily Riehm
Format: Article
Language:English
Subjects:
alpha-Thalassemia - diagnosis
alpha-Thalassemia - therapy
Blood Transfusion
Blood Transfusion, Intrauterine
Female
hematopoetic stem cell transplant
Hematopoietic Stem Cell Transplantation
hemolytic anemias
Humans
Infant, Newborn
iron overload
Male
Pregnancy
Prognosis
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Summary: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.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.26163