New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAGCAG]
| Autor: | Piero C. Giordano, Hong-Yuan Luo, Monica V.E. Gallivan, Menno de Metz, Sandra G.J. Arkesteijn, Marion Phylipsen, David H.K. Chui, Cornelis L. Harteveld |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Provisional diagnosis Microcytic anemia Thalassemia Hemoglobins Abnormal Clinical Biochemistry DNA Mutational Analysis beta-Globins Biology Frameshift mutation medicine Humans Gene Genetics (clinical) Chromatography High Pressure Liquid Aged Genetics delta-Globins Base Sequence Biochemistry (medical) Gene defect beta-Thalassemia Hematology medicine.disease Phenotype Stop codon Amino Acid Substitution Mutation Female |
| Zdroj: | Hemoglobin. 34(5) |
| ISSN: | 1532-432X |
| Popis: | We report a novel thalassemia determinant found in a Nigerian woman living in the Netherlands, resulting from a 2 bp insertion at codons 9/10 of the β-globin gene (HBBc.28_29insTA p.Ser10LeufsX11). The novel defect causes a frameshift with a consequent premature TGA stop codon, located at 11 positions downstream from the mutated codon. The phenotype was typical of a β-thalassemia (β-thal), trait with high RBC counts and compensated mild microcytic anemia. However, the Hb A(2) level was reported to be normal due to the presence of the common Hb A(2)' or Hb B2 [δ16(A13)Gly→Arg, GGCCGC] variant that was not taken into account. We also present the opposite but comparable situation found in an a Palestinian man living in the USA. He was a carrier of a common β-globin gene defect [codon 6 (-A), HBB:c.20delA] in combination with a novel δ-globin gene defect at codon 6 [HBD. c.19GC, Glu6Gln] that we have named Hb A(2)-Ramallah. In both cases, the provisional diagnosis could have been compromised when based on the measurement of the normal Hb A(2) fraction only. |
| Databáze: | OpenAIRE |
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