Aceruloplasminemia in a Turkish Adolescent With a Novel Mutation of Ceruloplasmin Gene: The First Diagnosed Case From Turkey


Gunes A. , SEZGİN EVİM M. , Baytan B., Iwata A., Hida A., Avci R.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.36, no.7, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 7
  • Publication Date: 2014
  • Doi Number: 10.1097/mph.0000000000000053
  • Title of Journal : JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Keywords: aceruloplasminemia, child, hypocromic microcytic anemia, IRON, DISORDER

Abstract

Aceruloplasminemia is a rare autosomal recessive disease that affects the iron metabolism of the body. When there is a lack of ceruloplasmin ferroxidase activity, iron accumulates, especially in the brain, pancreas, liver, and retina. The first symptom is generally a persistent hypochromic microcytic anemia with a mild high-serum ferritin level. The affected patients are usually recognized at later ages, when the neurological symptoms appear. The neurological outcome has an adverse effect on the prognosis, which may result in fatality. Therefore, early diagnosis and intervention may prevent a devastating neurological damage. Here, we report a case of aceruloplasminemia in a teenage girl with hypochromic microcytic anemia.