%0 Journal Article
%T Molecular characterization of the - -SEA alpha thalassemia allele in Mexican patients with HbH disease
%A Nava
%A Maria Paulina
%A Trejo
%A Jorge Martin
%A Aguilar-Luna
%A Carlos
%A Barros-N¨²£¿ez
%A Patricio
%A Ch¨¢vez
%A Ma. de la Luz
%A Maga£¿a
%A Mar¨ªa Teresa
%A Perea
%A Javier
%A Ibarra
%A Bertha
%J Revista de investigaci¨®n cl¨ªnica
%D 2006
%I Scientific Electronic Library Online
%X ¦Á-thalassemia is one of the most prevalent hemoglobin disorders in the world, in south-east asians, the--sea allele is widely found in the hbh disease patients. the purpose of this work is to describe the molecular characteristics of hemoglobin h disease in three patients from two mexican families, as well to analyze the dna sequence of the --sea allele to determine the precise site of the crossover. the -¦Á3.7 and --sea alleles were identified using an established long-pcr method modified in our laboratory. the crossover site of --sea mutation was analyzed by dna sequencing. the three hbh subjects showed the same genotype -¦Á3.7/--sea. the -¦Á3.7 allele has been observed in almost every racial studied group, whereas the --sea allele is predominant in south-east asian countries. dna analysis through the breakpoint sites of the --sea allele in both families showed the 5' breakpoint at the third base of codon 28 in the ¦×¦Á2 gene and the 3' breakpoint within an alu-jo sequence, 1,328 nucleotides upstream of the 3'hvr. therefore the size of the deletion is 19,303 nucleotides. this is the first report in which the flanking deletion sites of the--sea mutation have been analyzed in mexican patients, the 5' and 3' ends of the deletion is well determined.
%K ¦Á-thalassemia
%K hemoglobin h disease
%K -¦Á3.7
%K deletion. -- sea deletion.
%U http://www.scielo.org.mx/scielo.php?script=sci_abstract&pid=S0034-83762006000400007&lng=en&nrm=iso&tlng=en