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Article

Direct assessment of hereditary hemochromatosis in preimplantation genetic testing.

F&S science - 1 May 2025

Zhang Qinnan, Katz Maria, Podgursky Benjamin, Schuch Nicholas, Li Shenglai, Siddiqui Noor, Suer Funda, Xia Yuntao

Abstract excerpt

OBJECTIVE: Hereditary hemochromatosis (HH) is a common genetic disorder characterized by iron overload, which, if undiagnosed, can lead to severe organ damage. There are 4 types of HH. Type 1 HH, the most common form, is primarily caused by a common variant in Western Europe (p.Cys282Tyr, C282Y, or c.845 G>A). It is generally preventable during in vitro fertilization if proper genetic testing is performed before...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39716515
DOI: 10.1016/j.xfss.2024.12.003

Genes

HFE

Variants

Provenance

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