First Description of Hb San Diego (HBB: c.328G>A) in a Chinese Family with Congenital Erythrocytosis.

Abstract

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.

• Authors: Huixia Xiong, Suning Chen
• Journal: Hemoglobin (Hemoglobin) Vol. 43 Issue 2 Pg. 126-128 (Mar 2019) ISSN: 1532-432X [Electronic] England
• PMID: 31304856 (Publication Type: Journal Article)

Chemical References

• EPO protein, human
• Hemoglobins, Abnormal
• beta-Globins
• Erythropoietin
• hemoglobin San Diego
• Oxygen

Topics

• Asian People
• Erythropoietin (metabolism)
• Family
• Germ-Line Mutation
• Hemoglobins, Abnormal
• Humans
• Oxygen (metabolism)
• Polycythemia (congenital, genetics)
• Exome Sequencing
• beta-Globins (genetics)