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Rapid identification of the association of hemoglobin D Punjab and hemoglobin S (HbD Punjab/HbS) by the polymerase chain reaction

Maria de Fátima Sonati^I; Silvia Regina Pergamo de Miranda^II; Elza Maria Kimura^I; Sara Terezinha Olalla Saad^I; Fernando Ferreira Costa^II

^IDepartamento de Patologia Clínica, FCM/UNICAMP, Campinas, SP, Brasil
^IIDepartamento de Clínica Médica e Hemocentro, UNICAMP, Caixa Postal 6198, 13081-970 Campinas, SP, Brasil. Send correspondence to F.F.C.

ABSTRACT

Hemoglobin D-Punjab has been observed in several ethnic groups, either in heterozygosis or in association with lib S or b-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 b 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.

Keywords: hemoglobin D; punjab; hemoglobin S; polymerase.

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