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11446

When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature

Article

Last updated: 24 Dec 2024

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Abstract

This case report describes a newborn girl born with non-immune hydrops fetalis with bicytopenia and elevated iron indexes. A genetic study which was done revealed a positive result for the H63D homozygous mutation. Iron overload is rare in patients homozygous for the H63D mutation because of its variable penetrance, especially in the neonatal period. The possibility of neonatal hemochromatosis (NH) on top of positive results for hereditary hemochromatosis (HH) was anticipated. Despite all the recommended healthcare measurements being provided for both diagnoses, the child developed liver failure of unspecified etiology and was deceased afterward. 

DOI

10.12816/0043498

Keywords

HFE gene, p.H63D, ferritin, iron overload, Neonate, non-immune hydrops fetalis, Anemia, thrombocytopenia

Authors

First Name

Taha B.

Last Name

Aljishi

MiddleName

-

Affiliation

Department of Medicine, King Fahd Hospital, Imam Abdulrahman Bin Faisal University, Dammam

Email

taha900@hotmail.com

City

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Orcid

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First Name

Mohammad A.

Last Name

Al Ghamdi

MiddleName

-

Affiliation

Department of Pediatrics, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia

Email

-

City

-

Orcid

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Volume

70

Article Issue

3

Related Issue

2142

Issue Date

2018-01-01

Receive Date

2018-08-20

Publish Date

2018-01-01

Page Start

511

Page End

513

Print ISSN

1687-2002

Online ISSN

2090-7125

Article File

EJHM_Volume 70_Issue 3_Pages 511-513.pdf

PDF . 296.1kB

Link

https://ejhm.journals.ekb.eg/article_11446.html

Detail API

https://ejhm.journals.ekb.eg/service?article_code=11446

Order

29

Type

Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature

Details

Type

Article

Created At

22 Jan 2023