Impact of β-globin mutations on outcome of matched related donor hematopoietic stem cell transplantation for patients with β-thalassemia major.

The clinical outcome of hematopoietic stem cell transplantation (HSCT) for patients with β-thalassemia major (β-TM) can be affected by several factors. We investigated the influence of β-globin gene mutation in patients with β-TM on the clinical outcome of HSCT and conducted a prospective study of consecutive β-TM patients who underwent allogeneic HSCT at our center. Among 87 included patients, 62 (71%) had homozygous and 25 (29%) had compound heterozygous β-globin gene mutations. Intervening sequence II-1 appeared to be the most common mutation, with an occurrence rate of 33% in β-globin alleles. With a median follow-up of 12 months, the thalassemia-free survival and overall survival probabilities were 83% (standard error, 4%) and 90% (standard error, 3%), respectively. Overall survival was not found to be associated with the β-globin gene mutation status, but thalassemia-free survival was significantly improved in patients with homozygous mutations compared with patients with compound heterozygous mutations in univariate (91.2% versus 64.0%, P = .009) and multivariable (hazard ratio, 3.83; P = .014) analyses. This is the first report on the impact of β-globin mutation status on the outcome of β-TM after allogeneic HSCT and helps to better illustrate the course and prognosis of β-TM after transplantation.
AuthorsAmir Ali Hamidieh, Tina Saber, Shahrzad Fayyazi, Arash Jalali, Maryam Behfar, Amir Hamdi, Ardeshir Ghavamzadeh
JournalBiology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation (Biol Blood Marrow Transplant) Vol. 20 Issue 11 Pg. 1772-6 (Nov 2014) ISSN: 1523-6536 [Electronic] United States
PMID25017762 (Publication Type: Journal Article)
CopyrightCopyright © 2014 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.
Chemical References
  • beta-Globins
  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Hematopoietic Stem Cell Transplantation (methods)
  • Humans
  • Male
  • Mutation
  • Tissue Donors
  • Transplantation Conditioning (methods)
  • Treatment Outcome
  • beta-Globins (genetics, metabolism)
  • beta-Thalassemia (genetics, metabolism, therapy)

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