Recurring mutations in are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the gene in 6 unrelated individuals diagnosed with DBA. Although point mutations have not been previously reported for , we identified 4 individuals with truncating mutations p.

Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia.

Congenital dyserythropoietic anemia type I (CDA I) is associated, as other anemic noninflammatory states, with ineffective erythropoiesis and increased iron absorption, which may lead to complication of iron overload. The latter complication requires iron-chelating therapy, which may be associated with adverse effects and toxicity. Gastric acid production is known to be an important factor that facilitates non-heme iron absorption.

A γ/δ T-cell receptor prolymphocytic leukemia and CD4-/CD8- double-negative immunophenotype in a pediatric patient.

T-cell prolymphocytic leukemia is a very rare neoplasm, peaking in the seventh decade. An extensive search failed to find any report of this malignancy in the pediatric population. The malignant cell is morphologically characterized by a high nucleocytopasmic ratio, condensed chromatin, a single nucleolus, and nongranular basophilic cytoplasm.