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Zhonghua Xue Ye Xue Za Zhi. 2014 Jun;35(6):486-90. doi: 10.3760/cma.j.issn.0253-2727.2014.06.002.

[Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].

[Article in Chinese]

Author information

1
Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

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.

CONCLUSION:

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.

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