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Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.

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Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients. / Lehmberg, Kai; Grosse, Regine; Muckenthaler, Martina U; Altamura, Sandro; Nielsen, Peter; Schmid, Hansjörg; Graubner, Ulrike; Oyen, Florian; Zeller, Wolfgang; Schneppenheim, Reinhard; Janka-Schaub, Gritta.

In: ANN HEMATOL, Vol. 92, No. 3, 3, 2013, p. 387-394.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Lehmberg, K, Grosse, R, Muckenthaler, MU, Altamura, S, Nielsen, P, Schmid, H, Graubner, U, Oyen, F, Zeller, W, Schneppenheim, R & Janka-Schaub, G 2013, 'Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.', ANN HEMATOL, vol. 92, no. 3, 3, pp. 387-394. <http://www.ncbi.nlm.nih.gov/pubmed/23180434?dopt=Citation>

APA

Lehmberg, K., Grosse, R., Muckenthaler, M. U., Altamura, S., Nielsen, P., Schmid, H., Graubner, U., Oyen, F., Zeller, W., Schneppenheim, R., & Janka-Schaub, G. (2013). Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients. ANN HEMATOL, 92(3), 387-394. [3]. http://www.ncbi.nlm.nih.gov/pubmed/23180434?dopt=Citation

Vancouver

Lehmberg K, Grosse R, Muckenthaler MU, Altamura S, Nielsen P, Schmid H et al. Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients. ANN HEMATOL. 2013;92(3):387-394. 3.

Bibtex

@article{f415cb22a7e94baf9f2c40f99151971e,
title = "Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.",
abstract = "Mutations in transmembrane protease, serine 6 (TMPRSS6) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four independent families displaying the IRIDA picture with truncating biallelic mutations in TMPRSS6, one of which is novel. Liver iron determined by superconducting quantum interference device biosusceptometry ranged from 390 to 720 µg Fe/g wet weight (normal range 100-500; n = 3). Intestinal iron absorption (12 and 32 %, normal range 10-50; n = 2) and 59Fe erythrocyte incorporation after ingestion of 59Fe (57 and 38 %, normal range 70-90; n = 2) were inadequately low for iron-deficient anemic individuals. Baseline serum erythropoietin was elevated or borderline high in four patients. Administration of recombinant human erythropoietin (rhEPO) at up to 273 and 188 U/kg body weight/week alone did not improve anemia or result in a decrease of urinary hepcidin in two individuals. In conclusion, the ability of exogenous rhEPO to increase hemoglobin level appears to be impaired in IRIDA.",
keywords = "Humans, Male, Female, Adolescent, Young Adult, Child, Membrane Proteins/genetics, *Phenotype, Anemia, Iron-Deficiency/blood/*drug therapy/*genetics, Erythropoietin/*administration & dosage/blood, Recombinant Proteins/administration & dosage/blood, Serine Endopeptidases/genetics, Humans, Male, Female, Adolescent, Young Adult, Child, Membrane Proteins/genetics, *Phenotype, Anemia, Iron-Deficiency/blood/*drug therapy/*genetics, Erythropoietin/*administration & dosage/blood, Recombinant Proteins/administration & dosage/blood, Serine Endopeptidases/genetics",
author = "Kai Lehmberg and Regine Grosse and Muckenthaler, {Martina U} and Sandro Altamura and Peter Nielsen and Hansj{\"o}rg Schmid and Ulrike Graubner and Florian Oyen and Wolfgang Zeller and Reinhard Schneppenheim and Gritta Janka-Schaub",
year = "2013",
language = "English",
volume = "92",
pages = "387--394",
journal = "ANN HEMATOL",
issn = "0939-5555",
publisher = "Springer",
number = "3",

}

RIS

TY - JOUR

T1 - Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.

AU - Lehmberg, Kai

AU - Grosse, Regine

AU - Muckenthaler, Martina U

AU - Altamura, Sandro

AU - Nielsen, Peter

AU - Schmid, Hansjörg

AU - Graubner, Ulrike

AU - Oyen, Florian

AU - Zeller, Wolfgang

AU - Schneppenheim, Reinhard

AU - Janka-Schaub, Gritta

PY - 2013

Y1 - 2013

N2 - Mutations in transmembrane protease, serine 6 (TMPRSS6) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four independent families displaying the IRIDA picture with truncating biallelic mutations in TMPRSS6, one of which is novel. Liver iron determined by superconducting quantum interference device biosusceptometry ranged from 390 to 720 µg Fe/g wet weight (normal range 100-500; n = 3). Intestinal iron absorption (12 and 32 %, normal range 10-50; n = 2) and 59Fe erythrocyte incorporation after ingestion of 59Fe (57 and 38 %, normal range 70-90; n = 2) were inadequately low for iron-deficient anemic individuals. Baseline serum erythropoietin was elevated or borderline high in four patients. Administration of recombinant human erythropoietin (rhEPO) at up to 273 and 188 U/kg body weight/week alone did not improve anemia or result in a decrease of urinary hepcidin in two individuals. In conclusion, the ability of exogenous rhEPO to increase hemoglobin level appears to be impaired in IRIDA.

AB - Mutations in transmembrane protease, serine 6 (TMPRSS6) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four independent families displaying the IRIDA picture with truncating biallelic mutations in TMPRSS6, one of which is novel. Liver iron determined by superconducting quantum interference device biosusceptometry ranged from 390 to 720 µg Fe/g wet weight (normal range 100-500; n = 3). Intestinal iron absorption (12 and 32 %, normal range 10-50; n = 2) and 59Fe erythrocyte incorporation after ingestion of 59Fe (57 and 38 %, normal range 70-90; n = 2) were inadequately low for iron-deficient anemic individuals. Baseline serum erythropoietin was elevated or borderline high in four patients. Administration of recombinant human erythropoietin (rhEPO) at up to 273 and 188 U/kg body weight/week alone did not improve anemia or result in a decrease of urinary hepcidin in two individuals. In conclusion, the ability of exogenous rhEPO to increase hemoglobin level appears to be impaired in IRIDA.

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Young Adult

KW - Child

KW - Membrane Proteins/genetics

KW - Phenotype

KW - Anemia, Iron-Deficiency/blood/drug therapy/genetics

KW - Erythropoietin/administration & dosage/blood

KW - Recombinant Proteins/administration & dosage/blood

KW - Serine Endopeptidases/genetics

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Young Adult

KW - Child

KW - Membrane Proteins/genetics

KW - Phenotype

KW - Anemia, Iron-Deficiency/blood/drug therapy/genetics

KW - Erythropoietin/administration & dosage/blood

KW - Recombinant Proteins/administration & dosage/blood

KW - Serine Endopeptidases/genetics

M3 - SCORING: Journal article

VL - 92

SP - 387

EP - 394

JO - ANN HEMATOL

JF - ANN HEMATOL

SN - 0939-5555

IS - 3

M1 - 3

ER -