Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep58 | (1) | SFEBES2016

Endocrine Dysfunction in Diamond Blackfan Anaemia

Talla Maria Rita , McIlwaine Louisa , Panarelli Maurizio , Hughes Kate

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder of red blood cell aplasia characterized by normocytic or macrocytic anaemia and reticulocytopaenia. Short stature, of multifactorial aetiology, is often present. Some patients are glucocorticoid-responsive, while others remain transfusion-dependent leading to iron overload.Case Report: Asymmetrical growth restriction was present at birth. Aged ten weeks, severe anaemia developed. Bone marrow...