Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA).
- VernacularTitle:一例铁剂难治性缺铁性贫血患者临床特征和基因确证
- Author:
Yuanyuan XIONG
1
;
Wenrui YANG
1
;
Yang LI
1
;
Guangxin PENG
1
;
Yuan LI
1
;
Huihui FAN
1
;
Lei YE
1
;
Lin SONG
1
;
Xin ZHAO
1
;
Jianping LI
1
;
Liping JING
1
;
Li ZHANG
1
;
Kang ZHOU
1
;
Yidan XU
1
;
Fengkui ZHANG
1
Author Information
- Publication Type:Case Reports
- MeSH: Anemia, Iron-Deficiency; blood; genetics; Female; Hepcidins; blood; Humans; Membrane Proteins; genetics; Mutation; Protein Structure, Tertiary; Serine Endopeptidases; genetics; Young Adult
- From: Chinese Journal of Hematology 2014;35(6):486-490
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report the clinical data of a case of iron-refractory iron deficiency anemia (IRIDA), so as to improve the understanding of IRIDA.
METHODSThe 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.
RESULTSThe 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.
CONCLUSIONIn 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.
