Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)

Jenna Allison; Luke Drury; James B. Ford

doi:10.1097/MPH.0000000000001640

Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)

Jenna Allison, Luke Drury, James B. Ford

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

We describe a Caucasian family with asymptomatic, nonconsanguineous parents, and a daughter with unexplained microcytic anemia diagnosed on routine hemoglobin screening at her 12-month well child check. After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. The family underwent genetic testing and the proband was found to be a compound heterozygote for 2 previously unreported TMPRSS6 variants.

Original language	English (US)
Journal	Journal of Pediatric Hematology/Oncology
DOIs	https://doi.org/10.1097/MPH.0000000000001640
State	Accepted/In press - 2019

Keywords

IRIDA
TMPRSS6
hepcidin
iron refractory iron deficiency anemia
microcytic anemia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

Access to Document

10.1097/MPH.0000000000001640

Cite this

@article{d1e763c695724f08abb2ec6ef5a075a9,

title = "Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)",

abstract = "We describe a Caucasian family with asymptomatic, nonconsanguineous parents, and a daughter with unexplained microcytic anemia diagnosed on routine hemoglobin screening at her 12-month well child check. After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. The family underwent genetic testing and the proband was found to be a compound heterozygote for 2 previously unreported TMPRSS6 variants.",

keywords = "IRIDA, TMPRSS6, hepcidin, iron refractory iron deficiency anemia, microcytic anemia",

author = "Jenna Allison and Luke Drury and Ford, {James B.}",

year = "2019",

doi = "10.1097/MPH.0000000000001640",

language = "English (US)",

journal = "Journal of Pediatric Hematology/Oncology",

issn = "1077-4114",

publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)

AU - Allison, Jenna

AU - Drury, Luke

AU - Ford, James B.

PY - 2019

Y1 - 2019

N2 - We describe a Caucasian family with asymptomatic, nonconsanguineous parents, and a daughter with unexplained microcytic anemia diagnosed on routine hemoglobin screening at her 12-month well child check. After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. The family underwent genetic testing and the proband was found to be a compound heterozygote for 2 previously unreported TMPRSS6 variants.

AB - We describe a Caucasian family with asymptomatic, nonconsanguineous parents, and a daughter with unexplained microcytic anemia diagnosed on routine hemoglobin screening at her 12-month well child check. After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. The family underwent genetic testing and the proband was found to be a compound heterozygote for 2 previously unreported TMPRSS6 variants.

KW - IRIDA

KW - TMPRSS6

KW - hepcidin

KW - iron refractory iron deficiency anemia

KW - microcytic anemia

UR - http://www.scopus.com/inward/record.url?scp=85074929788&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85074929788&partnerID=8YFLogxK

U2 - 10.1097/MPH.0000000000001640

DO - 10.1097/MPH.0000000000001640

M3 - Article

C2 - 31714439

AN - SCOPUS:85074929788

SN - 1077-4114

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

ER -

Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this