Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family

Antonio Amato, Maria Pia Cappabianca, Donatella Ponzini, Paola Di Biagio, Alessia Colosimo, Valentina Guida, Fabrizio Mastropietro, Enrica Foglietta, Paola Grisanti, Silvana Rinaldi, Bruno Dallapiccola, Ida Bianco

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β 0 -thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

Original languageEnglish
Pages (from-to)405-407
Number of pages3
JournalHemoglobin
Volume30
Issue number3
DOIs
Publication statusPublished - Sep 1 2006

Fingerprint

Thalassemia
Globins
Nonsense Codon
Fathers
Italy
Siblings
Parents

Keywords

  • (AT) T Motif
  • -158 (C→T) γ Polymorphism
  • Nonsense mutation at codon 59
  • Polymorphic hypersensitive 2 (HS-2) site

ASJC Scopus subject areas

  • Hematology
  • Biochemistry

Cite this

Amato, A., Cappabianca, M. P., Ponzini, D., Di Biagio, P., Colosimo, A., Guida, V., ... Bianco, I. (2006). Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family. Hemoglobin, 30(3), 405-407. https://doi.org/10.1080/03630260600755948

Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family. / Amato, Antonio; Cappabianca, Maria Pia; Ponzini, Donatella; Di Biagio, Paola; Colosimo, Alessia; Guida, Valentina; Mastropietro, Fabrizio; Foglietta, Enrica; Grisanti, Paola; Rinaldi, Silvana; Dallapiccola, Bruno; Bianco, Ida.

In: Hemoglobin, Vol. 30, No. 3, 01.09.2006, p. 405-407.

Research output: Contribution to journalArticle

Amato, A, Cappabianca, MP, Ponzini, D, Di Biagio, P, Colosimo, A, Guida, V, Mastropietro, F, Foglietta, E, Grisanti, P, Rinaldi, S, Dallapiccola, B & Bianco, I 2006, 'Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family', Hemoglobin, vol. 30, no. 3, pp. 405-407. https://doi.org/10.1080/03630260600755948
Amato, Antonio ; Cappabianca, Maria Pia ; Ponzini, Donatella ; Di Biagio, Paola ; Colosimo, Alessia ; Guida, Valentina ; Mastropietro, Fabrizio ; Foglietta, Enrica ; Grisanti, Paola ; Rinaldi, Silvana ; Dallapiccola, Bruno ; Bianco, Ida. / Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family. In: Hemoglobin. 2006 ; Vol. 30, No. 3. pp. 405-407.
@article{7f82a1d7604c4d02b9502c7ad1511b29,
title = "Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family",
abstract = "In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β 0 -thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3{\%} in the proband and 1{\%} in his father).",
keywords = "(AT) T Motif, -158 (C→T) γ Polymorphism, Nonsense mutation at codon 59, Polymorphic hypersensitive 2 (HS-2) site",
author = "Antonio Amato and Cappabianca, {Maria Pia} and Donatella Ponzini and {Di Biagio}, Paola and Alessia Colosimo and Valentina Guida and Fabrizio Mastropietro and Enrica Foglietta and Paola Grisanti and Silvana Rinaldi and Bruno Dallapiccola and Ida Bianco",
year = "2006",
month = "9",
day = "1",
doi = "10.1080/03630260600755948",
language = "English",
volume = "30",
pages = "405--407",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "3",

}

TY - JOUR

T1 - Detection of a rare β-globin nonsense mutation [Codon 59 (AAG→TAG)] in an Italian family

AU - Amato, Antonio

AU - Cappabianca, Maria Pia

AU - Ponzini, Donatella

AU - Di Biagio, Paola

AU - Colosimo, Alessia

AU - Guida, Valentina

AU - Mastropietro, Fabrizio

AU - Foglietta, Enrica

AU - Grisanti, Paola

AU - Rinaldi, Silvana

AU - Dallapiccola, Bruno

AU - Bianco, Ida

PY - 2006/9/1

Y1 - 2006/9/1

N2 - In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β 0 -thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

AB - In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β 0 -thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

KW - (AT) T Motif

KW - -158 (C→T) γ Polymorphism

KW - Nonsense mutation at codon 59

KW - Polymorphic hypersensitive 2 (HS-2) site

UR - http://www.scopus.com/inward/record.url?scp=33746268976&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33746268976&partnerID=8YFLogxK

U2 - 10.1080/03630260600755948

DO - 10.1080/03630260600755948

M3 - Article

VL - 30

SP - 405

EP - 407

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 3

ER -