Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

doi:10.3390/genes12070958

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Article

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Genes - 23 Jun 2021

Andolfo Immacolata, Martone Stefania, Rosato Barbara Eleni, Marra Roberta, Gambale Antonella, Forni Gian Luca, Pinto Valeria, Göransson Magnus, Papadopoulou Vasiliki, Gavillet Mathilde, Elalfy Mohsen, Panarelli Antonella, Tomaiuolo Giovanna, Iolascon Achille, Russo Roberta

Abstract excerpt

Hereditary erythrocytes disorders include a large group of conditions with heterogeneous molecular bases and phenotypes. We analyzed here a case series of 155 consecutive patients with clinical suspicion of hereditary erythrocyte defects referred to the Medical Genetics Unit from 2018 to 2020. All of the cases followed a diagnostic workflow based on a targeted next-generation sequencing panel of 86 genes...

Topics

Adult
Anemia, Hemolytic, Congenital
Carrier Proteins
Erythrocytes
Female
Genetic Predisposition to Disease
Genetic Testing
Hematologic Diseases
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hydrops Fetalis

Ion Channels

Male

Microfilament Proteins

Middle Aged

Mutation

Spherocytosis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 34201899
DOI: 10.3390/genes12070958
PMCID: PMC8304671

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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