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  • SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis

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SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis
  1. Chris Barton1,2,
  2. Sabiha Kausar2,
  3. Deborah Kerr3,
  4. Stefania Bitetti4,
  5. Rob Wynn2
  1. 1 Department of Haematology and Oncology, Institute of Child Health, University of Liverpool, Liverpool, UK
  2. 2 Department of Hematology and Cellular Therapy, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  3. 3 Department of Clinical Genetics, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  4. 4 Department of Pathology and Histopathology, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  1. Correspondence to Professor Rob Wynn, Department of Bone Marrow Transplantation and Haematology, Royal Manchester Children’s NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK; Robert.Wynn{at}cmft.nhs.uk

Abstract

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.

  • congenenital anaemia
  • sideroblastic anaemia
  • fetal hydrops

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/jclinpath-2017-204698

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    Footnotes

    • Handling editor Mary Frances McMullin.

    • Contributors All authors have seen the content of this submitted article, and are in agreement that it is correct in both scientific and clinical fact, and is original in its current form and content.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; internally peer reviewed.