Literature DB >> 14517693

Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland.

D M Bogusławska1, E Heger, A Chorzalska, M Nierzwicka, J Hołojda, A Swiderska, A Straburzyńska, G Paździor, M Langner, A F Sikorski.   

Abstract

Red blood cells of 17 patients out of seven families diagnosed with HS from the southwest of Poland were studied. In six families a deficiency of ankyrin was detected, and in one family a band 3 (anion-exchanger protein) deficiency was detected. Patients from six families with the ankyrin deficiency had a 19-51% decrease in ankyrin 2.1, while the family with the band 3 deficiency showed a 33% decrease in this protein content. All changes were statistically significant, as analysed by the Student t test (P<0.05). Analysis of haemolysis kinetics gives a reliable indication of altered osmotic properties of the spherocytic cells.

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Year:  2003        PMID: 14517693     DOI: 10.1007/s00277-003-0739-5

Source DB:  PubMed          Journal:  Ann Hematol        ISSN: 0939-5555            Impact factor:   3.673


  5 in total

1.  A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.

Authors:  Chao Wang; Yazhou Cui; Yan Li; Xiao Liu; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2015-05

2.  A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.

Authors:  Dżamila M Bogusławska; Elżbieta Heger; Beata Machnicka; Michał Skulski; Kazimierz Kuliczkowski; Aleksander F Sikorski
Journal:  Ann Hematol       Date:  2016-10-06       Impact factor: 3.673

3.  Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

Authors:  Dżamila M Bogusławska; Michał Skulski; Beata Machnicka; Stanisław Potoczek; Sebastian Kraszewski; Kazimierz Kuliczkowski; Aleksander F Sikorski
Journal:  Int J Mol Sci       Date:  2021-10-12       Impact factor: 5.923

4.  Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant.

Authors:  Kyoko E Yuki; Megan M Eva; Etienne Richer; Dudley Chung; Marilène Paquet; Mathieu Cellier; François Canonne-Hergaux; Sophie Vaulont; Silvia M Vidal; Danielle Malo
Journal:  PLoS One       Date:  2013-02-04       Impact factor: 3.240

5.  Efficient method for isolation of reticulocyte RNA from healthy individuals and hemolytic anaemia patients.

Authors:  Michał Skulski; Rafał Bartoszewski; Michał Majkowski; Beata Machnicka; Kazimierz Kuliczkowski; Aleksander F Sikorski; Dżamila M Bogusławska
Journal:  J Cell Mol Med       Date:  2018-11-18       Impact factor: 5.310

  5 in total

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