Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
114
Views
1
CrossRef citations to date
0
Altmetric
Original Articles

A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family

, &
Pages 55-57 | Received 17 Nov 2019, Accepted 26 Dec 2019, Published online: 15 Jan 2020
 

Abstract

β-Thalassemia (β-thal) is one of the most common inherited hemoglobin (Hb) disorders in southern China. Up to now, the mutation spectrum of β-thal has been increasingly broadened through various molecular methods. In this study, a 34-year-old female displaying microcytic, hypochromic anemia was first detected with a novel IVS-I-6 (T>G) (HBB: c.92+6T>G) mutation by Sanger sequencing. Pedigree analysis performed on her family showed that her mother and her daughter, who had abnormal hematological indices, also carried this mutation, while her other family members with normal hematological phenotypes, were not detected to carry any mutation. Based on the observed symptoms in this Chinese family, we concluded that this novel mutation was associated with a mild β-thal phenotype.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.