Two New α-Thalassemia Frameshift Mutations

Hong-Yuang Luo Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA; The Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA

Adeboye H. Adewoye The Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA

Monika Pilichowska Department of Pathology, Tufts-New England Medical Center, Boston, Massachusetts, USA

Michael Yunlong Li Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA

Raveen K. Basran The Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA

Martin H. Steinberg The Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA; Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, Massachusetts, USA

David H.K. Chui Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA; The Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA; Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, Massachusetts, USACorrespondence[email protected]

show all

Abstract

α-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift α-thal mutations: a novel α1-globin gene deletion at codon 62 (GTG→ –TG) found in an African American man, and a second report on an α2-globin gene deletion at codon 22 (GGC→GG –) found in a Hispanic girl.

Keywords:

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Two New α-Thalassemia Frameshift Mutations

Information for

Open access

Opportunities

Help and information

Two New α-Thalassemia Frameshift Mutations

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature