%0 Journal Article
%T First Description of Hb San Diego (HBB: c.328G>A) in a Chinese Family with Congenital Erythrocytosis.
%A Xiong H
%A Chen S
%J Hemoglobin
%V 43
%N 2
%D Mar 2019
%M 31304856
%F 0.822
%R 10.1080/03630269.2019.1615940
%X Congenital erythrocytosis is a rare and hereditary disorder of red blood cell (RBC) production that can be caused by high oxygen affinity hemoglobin (Hb) variants. We applied a genetic approach including whole exome sequencing and Sanger sequencing. We identified a heterozygous β-globin gene (Hb San Diego or HBB: c.328G>A) in exon 3 as a causative germline mutation in a Chinese family with congenital erythrocytosis. We concluded that in erythrocytosis with a dominant inheritance and normal or inappropriately high erythropoietin (EPO) levels, the high oxygen affinity Hb variants should be considered. In addition, as a tool for identification of mutations in congenital erythrocytosis, whole exome sequencing improves diagnostic accuracy and provides the opportunity for discovery of novel variants.