Literature DB >> 15040423

Beta-globin-gene haplotypes, mitochondrial DNA, the Y-chromosome: their impact on the genetic epidemiology of the major structural hemoglobinopathies.

R L Nagel1.   

Abstract

The history of the discovery of the globin beta-like globin-gene haplotypes and their importance in the understanding of hemoglobinopathies has been reviewed recently. We will add in this review more recent findings and other molecular genetic tools that can help in the understanding of the genetic epidemiology of structural hemoglobinopathies, leaving the thalassemias for a later effort.

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Year:  2004        PMID: 15040423

Source DB:  PubMed          Journal:  Cell Mol Biol (Noisy-le-grand)        ISSN: 0145-5680            Impact factor:   1.770


  3 in total

1.  Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Authors:  Robert Aquaron; Nadem Soufir; Jean-Louis Bergé-Lefranc; Catherine Badens; Frederic Austerlitz; Bernard Grandchamp
Journal:  J Hum Genet       Date:  2007-09-01       Impact factor: 3.172

2.  Screening for Structural Hemoglobin Variants in Bahia, Brazil.

Authors:  Wellington Santos Silva; Roberto Ferreira de Oliveira; Sanzia Bezerra Ribeiro; Isabel Batista da Silva; Edna Maria de Araújo; Abrahão Fontes Baptista
Journal:  Int J Environ Res Public Health       Date:  2016-02-18       Impact factor: 3.390

3.  Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.

Authors:  Ylenia Barbanera; Francesco Arcioni; Hovirag Lancioni; Roberta La Starza; Irene Cardinali; Caterina Matteucci; Valeria Nofrini; Antonella Roetto; Antonio Piga; Paola Grammatico; Maurizio Caniglia; Cristina Mecucci; Paolo Gorello
Journal:  PLoS One       Date:  2020-10-22       Impact factor: 3.240

  3 in total

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