PT  - JOURNAL ARTICLE
AU  - Chris Barton
AU  - Sabiha Kausar
AU  - Deborah Kerr
AU  - Stefania Bitetti
AU  - Rob Wynn
TI  - SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis
AID  - 10.1136/jclinpath-2017-204698
DP  - 2018 Mar 01
TA  - Journal of Clinical Pathology
PG  - 275--278
VI  - 71
IP  - 3
4099  - http://jcp.bmj.com/content/71/3/275.short
4100  - http://jcp.bmj.com/content/71/3/275.full
SO  - J Clin Pathol2018 Mar 01; 71
AB  - 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.