Skip to main content
Erschienen in: Annals of Hematology 11/2003

01.11.2003 | Original Article

Triplication (/αααAnti3.7) or deletion (-α3.7/) association in Argentinian β-thalassemic carriers

verfasst von: I. M. Bragós, N. I. Noguera, M. P. Raviola, A. C. Milani

Erschienen in: Annals of Hematology | Ausgabe 11/2003

Einloggen, um Zugang zu erhalten

Abstract

Prevalence of alpha gene triplication or deletion in β-thalassemia carriers was studied in 109 unrelated individuals in Rosario, Argentina. In different populations -α3.7 allele presents a higher prevalence than αααanti3.7; thus, α-thalassemia associated with β-thalassemia is more frequently observed. Nevertheless, this event was detected in only one case (0.9%), while the association with alpha triplication was present in two subjects (1.8%).
Literatur
1.
Zurück zum Zitat Akerman BR, Fujiwara, TM, Lancaster GA, Morgan K, Scriever CR (1990) Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine. Am J Hematol 36:76–84 Akerman BR, Fujiwara, TM, Lancaster GA, Morgan K, Scriever CR (1990) Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine. Am J Hematol 36:76–84
2.
Zurück zum Zitat Flint J, Harding R, Boyce A, Clegg JB (1998) The population genetic of the haemoglobinopathies. In: Rodgers GP (ed) Sickle cell disease and thalassaemia. Baillieres Clin Haematol 11:53–89PubMed Flint J, Harding R, Boyce A, Clegg JB (1998) The population genetic of the haemoglobinopathies. In: Rodgers GP (ed) Sickle cell disease and thalassaemia. Baillieres Clin Haematol 11:53–89PubMed
3.
Zurück zum Zitat Galanello R, Ruggieri R, Paglietti E, Addis M, Melis MA, Cao A (1983) A family with segregating triplicated alpha globin loci and beta-thalassaemia. Blood 62:1035–1040PubMed Galanello R, Ruggieri R, Paglietti E, Addis M, Melis MA, Cao A (1983) A family with segregating triplicated alpha globin loci and beta-thalassaemia. Blood 62:1035–1040PubMed
4.
Zurück zum Zitat Noguera N, Bragós I, Milani A (2002) Prevalence of -α3,7 thalassemia in Argentina. Hemoglobin 26:103–106CrossRefPubMed Noguera N, Bragós I, Milani A (2002) Prevalence of -α3,7 thalassemia in Argentina. Hemoglobin 26:103–106CrossRefPubMed
5.
Zurück zum Zitat Old JM, Varawalla NY, Weatherall D (1990) Rapid detection and prenatal diagnosis of β thalassaemia: studies in Indian and Cypriot populations in the U.K. Lancet 336:834–837PubMed Old JM, Varawalla NY, Weatherall D (1990) Rapid detection and prenatal diagnosis of β thalassaemia: studies in Indian and Cypriot populations in the U.K. Lancet 336:834–837PubMed
6.
Zurück zum Zitat Sánchez Díaz J (1997) Prevalencia de la Alfa Talasemia en la Sangre del Cordón Umbilical. Estudio Mediante Hb Bart y Biología Molecular. Doctoral thesis, Universidad Complutense de Madrid Sánchez Díaz J (1997) Prevalencia de la Alfa Talasemia en la Sangre del Cordón Umbilical. Estudio Mediante Hb Bart y Biología Molecular. Doctoral thesis, Universidad Complutense de Madrid
7.
Zurück zum Zitat Smetanina NS, Huisman THJ (1996) Detection of alpha-thalassemia-2 (-3.7 kb) and its corresponding triplication (alpha)(alpha)(alpha) (anti-3.7 kb) by PCR: an improved technical change. Am J Hematol 53:202–203CrossRefPubMed Smetanina NS, Huisman THJ (1996) Detection of alpha-thalassemia-2 (-3.7 kb) and its corresponding triplication (alpha)(alpha)(alpha) (anti-3.7 kb) by PCR: an improved technical change. Am J Hematol 53:202–203CrossRefPubMed
8.
Zurück zum Zitat Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, Katamis C (1996) The triplicated alpha globin gene locus in beta thalassemia heterozygote; clinical, haematological, biosynthetic and molecular studies. Br J Haematol 95:467–471PubMed Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, Katamis C (1996) The triplicated alpha globin gene locus in beta thalassemia heterozygote; clinical, haematological, biosynthetic and molecular studies. Br J Haematol 95:467–471PubMed
9.
Zurück zum Zitat Velati C, Sampietro M, Biassoni M, Cappellini MD, Waisncoat JS, Higgs DR, Fiorelli G (1986) α Thalassaemia in an Italian population. Br J Haematol 63:497–501PubMed Velati C, Sampietro M, Biassoni M, Cappellini MD, Waisncoat JS, Higgs DR, Fiorelli G (1986) α Thalassaemia in an Italian population. Br J Haematol 63:497–501PubMed
10.
Zurück zum Zitat Wainscoat JS, Kanavakis E, Wood WG, Letsky EA, Huehns ER, Marsh GW, Higgs DR, Clegg JB, Weatherall DJ (1983) Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia. Br. J Haematol 53:411–416 Wainscoat JS, Kanavakis E, Wood WG, Letsky EA, Huehns ER, Marsh GW, Higgs DR, Clegg JB, Weatherall DJ (1983) Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia. Br. J Haematol 53:411–416
11.
Zurück zum Zitat Weatherall DJ, Clegg JB (1981) In: The thalassemia syndromes, 3rd edn. Blackwell Scientific Publications, Oxford, pp 150–185 Weatherall DJ, Clegg JB (1981) In: The thalassemia syndromes, 3rd edn. Blackwell Scientific Publications, Oxford, pp 150–185
Metadaten
Titel
Triplication (/αααAnti3.7) or deletion (-α3.7/) association in Argentinian β-thalassemic carriers
verfasst von
I. M. Bragós
N. I. Noguera
M. P. Raviola
A. C. Milani
Publikationsdatum
01.11.2003
Verlag
Springer-Verlag
Erschienen in
Annals of Hematology / Ausgabe 11/2003
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-003-0738-6

Weitere Artikel der Ausgabe 11/2003

Annals of Hematology 11/2003 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.