RAPID IDENTIFICATION OF THE ASSOCIATION OF HEMOGLOBIN D PUNJAB AND HEMOGLOBIN S (HBD PUNJAB HBS) BY THE POLYMERASE CHAIN-REACTION/

Hemoglobin D-Punjab has been observed in several ethnic groups, either in heterozygosis or in association with Hb S or beta-thalassemia. In this report, we describe the case of a 10 year-old Black Brazilian gir l who presented the classical clinical and hematological features of s ickle cell disease, but whose hemoglobin electrophoretic profile sugge sted the association Hb S/Hb D. The Hb D mutation was confirmed by Eco RI digestion of the PCR amplified beta globin gene and by sequencing o f the resulting fragment. The mutation involves a simple base change a t codon 121 which eliminates a normal EcoRI site. The abnormal gene ca n be detected by agarose Sd electrophoresis. This finding represents t he second proven case of Hb S/Hb D association in Brazil. We suggest t hat Hb D should be investigated by PCR techniques in sickle cell disea se patients presenting an anomalous hemoglobin electrophoretic profile .