Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.

Harteveld, Cornelis L; Jebbink, Max C W; van der Lely, Nico; van Delft, Peter; Akkermans, Nicole; Arkesteyn, Sandra; Giordano, Piero C

Harteveld, Cornelis L; Jebbink, Max C W; van der Lely, Nico; van Delft, Peter; Akkermans, Nicole; Arkesteyn, Sandra; Giordano, Piero C.

Affiliation

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

Hemoglobin ; 30(1): 3-7, 2006.

Article in En | MEDLINE | ID: mdl-16540408

Subject(s)

Alternative Splicing; Anemia, Hypochromic/genetics; Gene Deletion; Globins/genetics; Hemoglobins/genetics; Point Mutation; alpha-Thalassemia/genetics; Adult; Alleles; Anemia, Hypochromic/blood; Chronic Disease; DNA Mutational Analysis; Family Health; Humans; Male; Pedigree; Phenotype; Protein Subunits/genetics; alpha-Thalassemia/blood

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PubMed Links

Database: MEDLINE Main subject: Globins / Hemoglobins / Point Mutation / Gene Deletion / Alternative Splicing / Alpha-Thalassemia / Anemia, Hypochromic Limits: Adult / Humans / Male Language: En Year: 2006 Type: Article

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