| Autor: |
Paglietti ME; Clinica Pediatrica 2°, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Regionale Microcitemie, ASL 8 Cagliari, Italy., Sollaino MC, Loi D, Barella S, Desogus MF, Galanello R |
| Jazyk: |
angličtina |
| Zdroj: |
Hemoglobin [Hemoglobin] 2012; Vol. 36 (3), pp. 299-304. Date of Electronic Publication: 2012 Mar 19. |
| DOI: |
10.3109/03630269.2012.659780 |
| Abstrakt: |
Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion of a threonine residue at codon 39 of the α1-globin chain. Usually asymptomatic or with minimal hematological abnormalities in the heterozygous state, Hb Taybe becomes clinically evident in compound heterozygosity with α-thalassemia (α-thal) or in homozygous patients. To date, Hb Taybe has been described in Israeli-Arab and Greek individuals. We report, for the first time, a patient with chronic hemolytic anemia due to the presence of Hb Taybe in trans to the α2 initiation codon mutation ATG>ACG in an Italian child. Hb Taybe was not evident at Hb analysis with cellulose acetate electrophoresis and high performance liquid chromatography (HPLC). Globin biosynthetic studies revealed an α/β-globin ratio in the range of β-thal trait. Consequently, an investigation of the α- and β-globin genes was requested in order to avoid missing any rare globin chain variant and to offer accurate genetic counseling. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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