Compounded with hemoglobin Port Phillip and -^4.2 or --^SEA deletions were identified in Chinese population

Introduction: Although over 1000 hemoglobin (Hb) variants were identified so far, Hb Port Phillip compound with alpha-thalassemia deletion had no reported before. Methods: Two patients and the associated families from Guangdong province in China were recruited. Hematological parameters were determined by blood routine examination and hemoglobin electrophoresis. Genotyping was performed by Gap-PCR and Sanger sequencing. Results: One patient was diagnosed as Hb Port Phillip, while her daughter was compounded with -alpha 4.2 deletion, with normal Hb level (150 g/L), mean corpuscular volume (MCV) 108.4 fl and mean corpuscular hemoglobin (MCH) (30.5 pg). Another patient was diagnosed as compound Hb Port Phillip and --(SEA) deletion. This proband presented with more severe alpha-thalassemia trait than the patient compounded with -alpha(4.2) deletion, with hemoglobin 80 g/L, MCV 61.7 fl, and MCH 18.7 pg. Conclusion: Here we first time identified two patients compound with Hb Port Phillip and -alpha(4.2) and --(SEA) deletions, respectively, which had never been reported. Our study widens the genotypes of hemoglobinopathy and provides reference for genetic counselling and prenatal diagnosis in this population.