α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

Cornelis L. Harteveld Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands

Max C. W. Jebbink Department of Endocrinology, Reinier de Graaf Hospital, Delft, The Netherlands

Nico van der Lely Department of Paediatrics, Reinier de Graaf Hospital, Delft, The Netherlands

Peter van Delft Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands

Nicole Akkermans Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands

Sandra Arkesteyn Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands

Piero C. Giordano Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]

show all

Abstract

We present a family of North European extraction referred for a refractory non iron depleted microcytic anemia. The proband, a 36-year-old male, presented with chronic borderline anemia and microcytic hypochromic parameters. No abnormal hemoglobin (Hb) fractions were observed on high performance liquid chromatography (HPLC) or on alkaline electrophoresis. Gap-polymerase chain reaction (gap-PCR) excluded the seven common α-thalassemia (thal) deletion defects. However, the β/α-globin chain synthesis ratio measured in vitro was unbalanced, indicating a reduced expression of the α-globin genes. Direct sequencing of the α-globin genes revealed heterozygosity for a T→A transversion at the IVS-II-2 position of the α2 gene. This is the first IVS-II splice donor site mutation described on the α2-globin gene.

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.

α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

Information for

Open access

Opportunities

Help and information

α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

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