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

Lydia H. Pecker; Michael F. Guerrera; Brett Loechelt; An Massaro; Allistair A. Abraham; Ross M. Fasano; Emily Riehm Meier

doi:10.1002/pbc.26163

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

Lydia H. Pecker, Michael F. Guerrera, Brett Loechelt, An Massaro, Allistair A. Abraham, Ross M. Fasano, Emily Riehm Meier

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	151-155
Number of pages	5
Journal	Pediatric Blood and Cancer
Volume	64
Issue number	1
DOIs	https://doi.org/10.1002/pbc.26163
State	Published - Jan 1 2017
Externally published	Yes

Keywords

hematopoetic stem cell transplant
hemolytic anemias
iron overload

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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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.",

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AU - Massaro, An

AU - Abraham, Allistair A.

AU - Fasano, Ross M.

AU - Meier, Emily Riehm

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

Abstract

Keywords

ASJC Scopus subject areas

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