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Article

Fanconi Anemia: A Rarely Considered Cause of Macrocytosis During Childhood.

Journal of pediatric hematology/oncology - 1 Oct 2017

Aslan Deniz

Abstract excerpt

We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene. The patient, with normal clinical phenotype and negative chromosomal breakage test result, presented with macrocytosis. No clinical or laboratory changes were observed in a follow-up period of 4 years. The diagnosis was confirmed molecularly after a prolonged and exhaustive investigation. He was found to be a compound...

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Share to Erythrocytes, Abnormal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fanconi Anemia Complementation Group A Protein

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Source

Identifiers

PMID: 28060124
DOI: 10.1097/MPH.0000000000000749

Genes

FANCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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