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Molecular analysis of beta zero-thalassemia intermedia in Sardinia
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| Zeitschriftentitel: | Blood |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , |
| In: | Blood, 74, 1989, 2, S. 823-827 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
American Society of Hematology
|
| Schlagwörter: |
| author_facet |
Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E |
|---|---|
| author |
Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E |
| spellingShingle |
Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E Blood Molecular analysis of beta zero-thalassemia intermedia in Sardinia Cell Biology Hematology Immunology Biochemistry |
| author_sort |
galanello, r |
| spelling |
Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood.v74.2.823.bloodjournal742823 <jats:p>In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5′ to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two- gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha- thalassemia.</jats:p> Molecular analysis of beta zero-thalassemia intermedia in Sardinia Blood |
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10.1182/blood.v74.2.823.bloodjournal742823 |
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Biologie Medizin Chemie und Pharmazie |
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American Society of Hematology, 1989 |
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American Society of Hematology, 1989 |
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0006-4971 1528-0020 |
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1989 |
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American Society of Hematology |
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| title |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_unstemmed |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_full |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_fullStr |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_full_unstemmed |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_short |
Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_sort |
molecular analysis of beta zero-thalassemia intermedia in sardinia |
| topic |
Cell Biology Hematology Immunology Biochemistry |
| url |
http://dx.doi.org/10.1182/blood.v74.2.823.bloodjournal742823 |
| publishDate |
1989 |
| physical |
823-827 |
| description |
<jats:p>In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5′ to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two- gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha- thalassemia.</jats:p> |
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| author | Galanello, R, Dessi, E, Melis, MA, Addis, M, Sanna, MA, Rosatelli, C, Argiolu, F, Giagu, N, Turco, MP, Cacace, E |
| author_facet | Galanello, R, Dessi, E, Melis, MA, Addis, M, Sanna, MA, Rosatelli, C, Argiolu, F, Giagu, N, Turco, MP, Cacace, E, Galanello, R, Dessi, E, Melis, MA, Addis, M, Sanna, MA, Rosatelli, C, Argiolu, F, Giagu, N, Turco, MP, Cacace, E |
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| description | <jats:p>In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5′ to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two- gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha- thalassemia.</jats:p> |
| doi_str_mv | 10.1182/blood.v74.2.823.bloodjournal742823 |
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| imprint | American Society of Hematology, 1989 |
| imprint_str_mv | American Society of Hematology, 1989 |
| institution | DE-Brt1, DE-Zwi2, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Rs1, DE-Pl11, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3 |
| issn | 0006-4971, 1528-0020 |
| issn_str_mv | 0006-4971, 1528-0020 |
| language | English |
| last_indexed | 2024-03-01T11:41:11.483Z |
| match_str | galanello1989molecularanalysisofbetazerothalassemiaintermediainsardinia |
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| physical | 823-827 |
| publishDate | 1989 |
| publishDateSort | 1989 |
| publisher | American Society of Hematology |
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| spelling | Galanello, R Dessi, E Melis, MA Addis, M Sanna, MA Rosatelli, C Argiolu, F Giagu, N Turco, MP Cacace, E 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood.v74.2.823.bloodjournal742823 <jats:p>In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5′ to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two- gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha- thalassemia.</jats:p> Molecular analysis of beta zero-thalassemia intermedia in Sardinia Blood |
| spellingShingle | Galanello, R, Dessi, E, Melis, MA, Addis, M, Sanna, MA, Rosatelli, C, Argiolu, F, Giagu, N, Turco, MP, Cacace, E, Blood, Molecular analysis of beta zero-thalassemia intermedia in Sardinia, Cell Biology, Hematology, Immunology, Biochemistry |
| title | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_full | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_fullStr | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_full_unstemmed | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_short | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| title_sort | molecular analysis of beta zero-thalassemia intermedia in sardinia |
| title_unstemmed | Molecular analysis of beta zero-thalassemia intermedia in Sardinia |
| topic | Cell Biology, Hematology, Immunology, Biochemistry |
| url | http://dx.doi.org/10.1182/blood.v74.2.823.bloodjournal742823 |