Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2017 Jan;41(1):65-67.
doi: 10.1080/03630269.2017.1289102. Epub 2017 Apr 2.

A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]

Li Lin  1 , Biyan Chen  1 , Shang Yi  1 , Qiuli Chen  1 , Hongwei Wei  1 , Guojian Li  2 , Chenguang Zheng  1 , Xiao-Xia Qiu  1 , Sheng He  1
Affiliations
Case Reports

A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]

Li Lin et al. Hemoglobin. 2017 Jan.

Abstract

We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α+-thalassemia (α+-thal) deletion [-α3.7 (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α0-thal deletion (--SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation.

Keywords: Hb Debao; nondeletional mutation; α-thalassemia; α2-globin gene.

PubMed Disclaimer

Publication types

LinkOut - more resources