Literature DB >> 14636652

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.

J Yoaly Sánchez-López1, Ana L Camacho, Maria Teresa Magaña, Bertha Ibarra, F Javier Perea.   

Abstract

Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.2 protein (6%), and the beta spectrins (3%). A predominant deficiency of spectrins has also been observed in other Latin American and Mediterranean countries. However, it is well known that deficiencies in these proteins are heterogeneous across different ethnic groups. A combined protein deficiency was observed in 52% of patients, most frequently involving the spectrins, band 3 protein, 4.2 protein, and 4.1 protein. In three subjects, no abnormalities were detected (10%). We conclude that, despite the observed heterogeneity, the principal affected proteins are essentially similar to those observed in other ethnic groups.

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Year:  2003        PMID: 14636652     DOI: 10.1016/s1079-9796(03)00207-9

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN: 1079-9796            Impact factor:   3.039


  3 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.  Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation.

Authors:  Josefina Y Sánchez-López; Ana L Camacho-Torres; Bertha Ibarra; Jesús A Tintos; Francisco J Perea
Journal:  Genet Mol Biol       Date:  2010-03-01       Impact factor: 1.771

3.  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

  3 in total

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