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, cilt.36, sa.7, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 7
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1097/mph.0000000000000053
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: aceruloplasminemia, child, hypocromic microcytic anemia, IRON, DISORDER
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.