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 journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)151-155
Number of pages5
JournalPediatric Blood and Cancer
Volume64
Issue number1
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

Keywords

  • hematopoetic stem cell transplant
  • hemolytic anemias
  • iron overload

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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