title: Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey.
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.
authors.affiliation: Departments of *Pediatric Hematology, Faculty of Medicine, Uludag University §Ophthalmology, Ophthalmic Hospital, Bursa, Turkey Departments of †Neurology, Graduate School of Medicine ‡Molecular Neuroscience on Neurodegeneration and Neurology, Graduate School of Medicine, The University of Tokyo, Hongo, Bunkyo-ku, Tokyo, Japan.
authors.forename: Adalet
authors.initials: A
authors.lastname: Meral Gunes
authors.forename: Melike
authors.initials: M
authors.lastname: Sezgin Evim
authors.forename: Birol
authors.initials: B
authors.lastname: Baytan
authors.forename: Atsushi
authors.initials: A
authors.lastname: Iwata
authors.forename: Ayumi
authors.initials: A
authors.lastname: Hida
authors.forename: Remzi
authors.initials: R
authors.lastname: Avci
mesh_terms: D000293:Adolescent; D000747:Anemia, Hypochromic / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D018389:Codon, Nonsense; D005260:Female; D005293:Ferritins / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; D005293:Ferritins; D002570:Ceruloplasmin