TY - JOUR T1 - SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis JF - Journal of Clinical Pathology JO - J Clin Pathol DO - 10.1136/jclinpath-2017-204698 SP - jclinpath-2017-204698 AU - Chris Barton AU - Sabiha Kausar AU - Deborah Kerr AU - Stefania Bitetti AU - Rob Wynn Y1 - 2017/11/28 UR - http://jcp.bmj.com/content/early/2017/11/28/jclinpath-2017-204698.abstract N2 - SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency, fevers and developmental delay, arising in mutations within the TRNT1 gene. Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever. In this report, we extend the described SIFD phenotype. We describe a kindred in which the index case presented with fetal hydrops, and early neonatal death, and the second child had severe anaemia at delivery. Both cases had prominent extramedullary erythropoiesis and numerous circulating nucleated red blood cells. ER -