A Dutch Fay with Hb Atlanta [β75(E19)Leu → Pr0]
| Autor: | J. de Regt, Piero C. Giordano, D. Roos, V. Aygüin, G. A.E. Ponjee, R. van Zwieten, C. L. Harteveld, C. J. Pronk-Admiraal |
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| Rok vydání: | 1996 |
| Předmět: | |
| Zdroj: | Hemoglobin. 20:351-359 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We have investigated four members of a three-generation Dutch family for a suspected hemoglobinopathy. Chronic hemolysis and a moderate macrocytic normochromic anemia with slight morphological abnormalities of the red cells was observed in all four. Hemoglobin chain synthesis in vitro and separation of the globin chains by reversed phase high performance liquid chromatography revealed an abnormal p-globin species in addition to the normal α and β chains. The decreased amount of normal β-globin and the low amount of unidentified protein suggested an unstable β-globin variant. An abnormal band was detected by isoelectrofocusing. In one family member tested, the hemoglobin in an erythrocyte lysate had decreased heat stability. All carriers were positive in the isopropanol hemoglobin instability test. Treatment of erythrocytes with methylviolet gave rise tomicrogranular inclusions. Nucleotide sequencing of the polymerase chain reaction-amplified 0-globin gene revealed a heterozygous single base pair T → C mut... |
| Databáze: | OpenAIRE |
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