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

ABSTRACT:

Introduction

Although over 1000 hemoglobin (Hb) variants were identified so far, Hb Port Phillip compound with α-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 -α4.2 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 α-t

SUBMITTER: Du L 

PROVIDER: S-EPMC8457688 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature