Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia

Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients’ optimal clinical management and family counseling. A nondysmorphic infant reported here developed severe transfusion-dependent anemia and met clinical criteria for diagnosis of Diamond–Blackfan anemia (DBA). However, whole-exome...