Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis-Reference-Cited by-同舟云学术

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

Published:2017-07-29 Issue:10 Volume:92 Page:E607-E609
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Al-Riyami Arwa Z.¹^ORCID,Iolascon Achille²³,Al-Zadjali Shoaib¹,Andolfo Immacolata²³,Al-Mammari Sahima¹,Manna Francesco²³,Al Rawas AbdulHakim⁴,King May-Jean⁵,Russo Roberta²³^ORCID

Affiliation:

1. Department of Hematology; Sultan Qaboos University Hospital; Oman

2. Department of Molecular Medicine and Medical Biotechnology; University Federico II; Naples Italy

3. CEINGE-Biotecnologie Avanzate; Naples Italy

4. Department of Child Health; Sultan Qaboos University Hospital; Oman

5. Membrane Biochemistry; International Blood Group Reference Laboratory, NHS Blood & Transplant; Bristol United Kingdom

Funder

Regione Campania

Italian Ministry of University and Research

Publisher

Wiley

Subject

Hematology

Reference6 articles.

1. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders;King;Int J Lab Hem.,2015

2. Hereditary elliptocytosis: spectrin and protein 4.1R;Gallagher;Semin Hematol,2004

3. Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis;Coetzer;Blood.,1990

4. Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis;King;Cytom B Clin Cytom,2008

5. RedPlex: a targeted next generation sequencing-based diagnosis for patients with hereditary hemolytic anemias;Russo;Haematologica.,2016

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