title: [Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].
abstract: OBJECTIVE
  To report the clinical data of a case of iron-refractory iron deficiency anemia (IRIDA), so as to improve the understanding of IRIDA.
  
  
  METHODS
  The IRIDA patient's hematological characteristics were summarized and analyzed. The hepcidin levels were tested by ELISA kit. The TMPRSS6 gene was amplified by PCR reaction and its mutation was analyzed by sequencing. The effect of TMPRSS6 gene mutation on TMPRSS6 protein tertiary structure was predicted by Swiss-Model.
  
  
  RESULTS
  The patient was characterized by typical microcytic hypochromic anemia, low transferrin saturation, more reduction of intracellular iron than exocellular iron. The plasma hepcidin level was 213.77 μg/L which was significantly higher than that of IDA patients [5.19(3.31-12.02) μg/L]. The patient also carried a homozygous missense mutation of K253E in exon 7 of TMPRSS6.
  
  
  CONCLUSIONS
  In children and younger IDA patients with no reason for iron deficiency but unresponsiveness to routine iron treatment, the diagnosis of IRIDA needs to be considered. Serum hepcidin level and TMPRSS6 gene mutation should be detected.
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Xiong
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Wenrui
authors.initials: W
authors.lastname: Yang
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Guangxin
authors.initials: G
authors.lastname: Peng
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Huihui
authors.initials: H
authors.lastname: Fan
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Ye
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Song
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Zhao
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Jianping
authors.initials: J
authors.lastname: Li
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Jing
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Kang
authors.initials: K
authors.lastname: Zhou
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yidan
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Fengkui
authors.initials: F
authors.lastname: Zhang
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D064451:Hepcidins / Q000097:blood; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D017434:Protein Structure, Tertiary; D012697:Serine Endopeptidases / Q000235:genetics*; D055815:Young Adult
chemical_list: D064451:Hepcidins; D008565:Membrane Proteins; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human