Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: The first diagnosed case from Turkey

Iwata, AtsushiHida, AyumiAvcı, Remzi2024-02-132024-02-132014-09-14Güneş, A. M. vd. (2014). "Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: The first diagnosed case from Turkey". Journal of Pediatric Hematology/Oncology, 36(7), E423-E425.1077-4114https://journals.lww.com/jpho-online/fulltext/2014/10000/aceruloplasminemia_in_a_turkish_adolescent_with_a.20.aspxhttps://hdl.handle.net/11452/39656Aceruloplasminemia 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.eninfo:eu-repo/semantics/closedAccessAceruloplasminemiaHypocromic microcytic anemiaChildIronDisorderOncologyHematologyPediatricsAdolescentAnemia, hypochromicCeruloplasminCodon, nonsenseFemaleFerritinsGenes, recessiveHumansIron metabolism disordersNeurodegenerative diseasesTurkeyAceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: The first diagnosed case from TurkeyArticle0003430453000052-s2.0-84911002771E423E42536725247888https://doi.org/10.1097/MPH.0000000000000053Oncology Hematology PediatricsFamilial Apoceruloplasmin Deficiency; Ceruloplasmin; IronAceruloplasminemiaAdolescentArticleAutosomal recessive disorderBlood smearBrainCase reportCoombs testEnzyme activityFatalityFemaleFerritin blood levelGene mutationHemoglobin blood levelHumanIron deficiency anemiaIron metabolismIron therapyLiverNeurologic diseasePancreasPhysical examinationPrognosisRefractory anemiaRetinaSymptomatologyTurk (people)ArticleBloodDegenerative diseaseGeneticsIron deficiency anemiaIron metabolism disorderMetabolismRecessive geneStop codonTurkey (republic)Alpha tocopherolAscorbic acidCeruloplasminDeferiproneFerritinFresh frozen plasmaHemoglobinIronIron chelating agentThyroid hormoneZincCeruloplasmin1536-3678