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Article

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

American journal of hematology - 1 May 2018

Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achille

Abstract excerpt

Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the...

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Topics

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Share to Anemia, Dyserythropoietic, Congenital
Share to Anemia, Hemolytic, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29396846
DOI: 10.1002/ajh.25058

Genes

CDA
CAD
PIEZO1
PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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