Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant

Gok V., ÖZCAN A., Ozer S., Karaman F., AYKUTLU E., YILMAZ E., ...More

Pediatric Hematology and Oncology, vol.40, no.7, pp.673-681, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 7
  • Publication Date: 2023
  • Doi Number: 10.1080/08880018.2022.2140235
  • Journal Name: Pediatric Hematology and Oncology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.673-681
  • Keywords: Aceruloplasminemia, ceruloplasmin, iron, microcytic anemia, neurotoxicity, CERULOPLASMIN GENE, IRON OVERLOAD, MUTATION, HEPCIDIN, THERAPY
  • Kayseri University Affiliated: No


© 2022 Taylor & Francis Group, LLC.Aceruloplasminemia inherited autosomal recessively in the ceruloplasmin gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. Ceruloplasmin gene encodes ceruloplasmin protein, which has ferroxidase activity and is involved in copper and iron metabolism. Progressive neurotoxicity, retinopathy, and diabetes may develop in about 40-60 decades. In addition, microcytic anemia accompanied by high ferritin and low ceruloplasmin level that develop at earlier ages can be first manifestation. Iron chelation may be utilized in the treatment to reduce the toxicity. Early diagnosis and treatment may delay the onset of symptoms. A 14-year-old male patient was followed up with microcytic anemia since an eight-years old. Anemia was accompanied by microcytosis, high ferritin, and low copper and ceruloplasmin levels. A novel homozygous c.690delG variant was detected in ceruloplasmin by whole exome sequencing. Clinical, laboratory and imaging findings of the patient demonstrated aceruloplasminemia. We present a boy with persistent microcytic anemia of the first manifestation at the age of eight, as the youngest case of aceruloplasminemia in the literature. Thereby, aceruloplasminemia should be kept in mind in the etiology of microcytic anemia whose cause couldn’t found in childhood.