Detection of non-deletional type of hereditary persistence of fetal hemoglobin (HPFH) condition associated with 619 bp β°-thalassemia deletion

摘要

DNA samples from a family (parents and a son) with hereditary persistence of fetal hemoglobin (HPFH) condition were subjected to amplification of a 1.214 kbp DNA fragment from β-globin gene using polymerase chain reaction (PCR). The aim of this study was to identify the type of HPFH i.e. deletional or non deletional. Non deletional type of HPFH was identified in two samples and moreover, these samples were found to be associated with 619bp β°-thalassemia deletion. This is the first report on the association of non deletional HPFH with 619bp β°-thalassemia deletion.