Fanconi anemia phenotypic and transplant outcomes' associations in Iranian patients

Abstract

Abstract Objectives Fanconi anemia (FA) is a rare, heterogeneous, inherited disorder. Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only therapeutic option to restore normal hematopoiesis. This study reports the outcomes of FA‐HSCT patients and identifies factors, including clinical phenotype. Our team examined more than 95% of Iranian FA patients during the last decade. Study Design One hundred and six FA patients (age range: 2–41) who underwent HSCT from March 2007 to February 2018 were enrolled. Clinical characteristics of genetic disease, pre‐HSCT findings, HSCT indication, and long‐term follow‐up evaluated and recorded. Data were analyzed using SPSS 19.0. Results The mean follow‐up period for survivors was 36 months (range, 1–101). The 3‐year overall survival (OS) and disease‐free survival were 72.2% and 71.2%, respectively. The 3‐year OS rate for patients with limited and extensive malformations was 78.8% and 56.6%, respectively (p = 0.025). Acute graft versus host disease incidence was 60.52% for patients with limited malformations versus 70% for patients with extensive ones (p = 0.49). Chronic graft versus host disease incidence for these two groups was 9.21% and 10%, respectively (p = 0.91). Conclusions OS was not associated with each of the malformations singly; however, it was lower in the extensive group. The younger age of patients at the HSCT time leads to a higher OS. The differences in FA patients' outcomes and the various genotypes were probably related. These data provide a powerful tool for further studies on genotype–phenotype association with HSCT results.

Keywords

• congenital abnormalities
• Fanconi anemia
• hematopoietic stem cell transplantation
• phenotype