Codon 104(-G), a dominant β0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors
| Autor: | Georgia Lahr, Joaquin Brintrup, Stefan Over, Gerhard E. Feurle, Klaus-Michel Debatin, Elisabeth Kohne |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: | |
| Zdroj: | Haematologica, Vol 92, Iss 9 (2007) |
| Druh dokumentu: | article |
| ISSN: | 0390-6078 1592-8721 |
| DOI: | 10.3324/haematol.11383 |
| Popis: | Codon 104(−G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited β0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited α gene triplication, long-term transfusion therapy, and ineffective erythropoiesis were confounding factors. |
| Databáze: | Directory of Open Access Journals |
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