Significance of hepcidin level assessment in the diagnosis of selected types of anaemia in childhood

Authors: D. Pospíšilová 1;  J. Houda 1;  D. Holub 2;  B. Ludíková 1;  R. Mojzíková 3;  P. Pospíšilová 3;  Z. Židová 3;  K. Kapraľová 3;  M. Horváthová 3;  M. Hajdůch 2;  P. Džubák 2
Authors‘ workplace: Dětská klinika, Lékařská fakulta Univerzity Palackého v Olomouci a Fakultní nemocnice Olomouc 1;  Ústav molekulární a translační medicíny, Lékařská fakulta Univerzity Palackého v Olomouci 2;  Ústav biologie, Lékařská fakulta Univerzity Palackého v Olomouci 3
Published in: Transfuze Hematol. dnes,18, 2012, No. 2, p. 58-65.
Category: Comprehensive Reports, Original Papers, Case Reports


The peptide hormone hepcidin is the principal factor regulating iron homeostasis. It ensures communication between sites where iron is stored (hepatocytes and macrophages) and sites where it is absorbed (enterocytes), utilised (erythroid cells) or recycled and released into the bloodstream (macrophages). Hepcidin synthesis is regulated by signals responding to inflammation, erythropoietic activity, iron level, iron stores in the organism and oxygen tension. An increase in hepcidin levels leads to iron retention in enterocytes and macrophages and to a fall in iron plasma levels.

To assess hepcidin levels and their diagnostic contribution in paediatric patients with selected types of anaemia: Diamond-Blackfan anaemia (DBA), pyruvate kinase deficiency (PK), iron deficiency anaemia (IDA) and anaemia in inflammatory bowel disease (IBD).

Patients and Methods.
Hepcidin levels were assessed in 33 children using the proteomic analysis method – 17 boys and 16 girls (6 patients with DBA, 5 patients with PK deficiency, 10 patients with IDA and 12 patients with IBD) aged 6 months–18 years. Hepcidin levels were compared to those in a cohort of 16 healthy children examined prior to the planned surgical interventions.

Hepcidin levels in patients with severe forms of DBA are significantly higher than those in the controls (p<0.0005) despite high erythropoietin levels. The high hepcidin levels in DBA patients represent a completely different finding, compared to patients with thalassemia. This is likely to be caused by the absence of an “erythroid regulator” associated with severely reduced erythropoiesis. On the contrary, hepcidin levels in patients with PK deficiency are significantly lower (p<0.02), which theoretically corresponds to erythropoiesis acceleration. This theory is also supported by the increased level of the potential erythroid regulator of hepcidin production: GDF15. Low hepcidin levels may contribute to greater iron overload in these patients. In patients with IDA, significantly lower hepcidin levels (p<0.01) are found; they are likely to express the organismęs increased iron-demands. Surprisingly, no significant difference between hepcidin levels in patients with IBD and the controls was observed. In paediatric patients with IBD, true iron deficiency probably prevails over the characteristic presentation of anaemia of chronic disease.

Determination of hepcidin levels may help in the more accurate diagnosis of a whole range of anaemias by providing information on the current status of iron metabolism. It may provide important information not only regarding the current deficiency of iron required for erythropoiesis and the degree of iron overload, but also regarding the current capacity of enterocytes to absorb iron from the intestinal lumen. It may be useful as a guide for making decisions regarding the indication of oral and parenteral iron application. Hepcidin levels, in correlation with those of other proteins involved in the regulation of iron metabolism, may bring very important insights into aspects of iron homeostasis that are as yet unclear.

Key words:
hepcidin, proteomic analysis, iron deficiency anaemia, anaemia of chronic diseases, inflammatory bowel disease, Diamond-Blackfan anaemia, pyruvate kinase deficiency.


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