Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7.-Reference-Cited by-同舟云学术

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Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7.

Published:2019-12 Issue: Volume:74 Page:80-85
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Casale Maddalena,Cozzolino Flora,Scianguetta Saverio,Pucci Piero,Monaco Vittoria,Sanchez Gianmaria,Santoro Claudia,Rubino Roberta,Cannata Monica,Perrotta Silverio

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference34 articles.

1. Global epidemiology of haemoglobin disorders and derived service indicators;Modell;Bull. World Health Organ.,2008

2. Hemoglobin variants: biochemical properties and clinical correlates;Thom;Cold Spring Harb Perspect Med.,2013

3. IthaGenes: an interactive database for haemoglobin variations and epidemiology;Kountouris;PLoS One,2014

4. Detection of mutant hemoglobins with altered affinity for oxygen;Lichtman;A simplified technique. Ann Intern Med,1976

5. Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia;Agarwal;Int. J. Med. Sci.,2007

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1. Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together;Clinical Chemistry and Laboratory Medicine (CCLM);2021-04-23

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