Diamond-Blackfan Anemia (DBA) is a rare congenital bone marrow failure syndrome typically diagnosed during infancy and is characterized by macrocytic anemia, congenital malformations, and predisposition to cancer. There were 32 patients treated for DBA at a single tertiary care referral center from 2000-2022. A retrospective chart review characterized patient presentation at diagnosis, the clinical course of each patient, and the various treatment strategies with correlation to patient outcome. Our study emphasizes the importance of screening for DBA in patients who present with macrocytic anemia regardless of age at presentation as a substantial proportion of patients presented after infancy.

Eighteen pediatric oncology or bone marrow transplant (BMT) survivors who had liver iron content of >12 mg/g dry weight also underwent Cardiac MR (CMR) to quantify cardiac iron content. Despite high transfused packed red blood cell volumes (mean 383 ml/kg) patients all had cardiac T2* relaxation times in normal ranges (T2* relaxation time mean 35.1 msec ± 7.1 [normal >20 msec]).

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.