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|Type:||Artigo de periódico|
|Title:||Rapid Identification Of The Association Of Hemoglobin D Punjab And Hemoglobin S (hbd Punjab/hbs) By The Polymerase Chain Reaction|
De Miranda S.R.P.
|Abstract:||Hemoglobin D-Punjab has been observed in several ethnic groups, either in heterozygosis or in association with Hb S or β-thalassemia. In this report, we describe the case of a 10 year-old Black Brazilian girl who presented the classical, clinical and hematological features of sickle cell disease, but whose hemoglobin electrophoretic profile suggested the association Hb S/Hb D. The Hb D mutation was confirmed by EcoRI digestion of the PCR amplified β globin gene and by sequencing of the resulting fragment. The mutation involves a simple base change at codon 121 which eliminates a normal EcoRI site. The abnormal gene can be detected by agarose gel electrophoresis. This finding represents the second proven case of Hb S/Hb D association in Brazil. We suggest that Hb D should be investigated by PCR techniques in sickle cell disease patients presenting an anomalous hemoglobin electrophoretic profile.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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