Advanced search
Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 6
Submit an article Journal homepage
179
Views
8
CrossRef citations to date
0
Altmetric
Original Article

The Molecular Spectrum of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy

Paolo GorelloDipartimento di Medicina, Ematologia, Università degli Studi di Perugia, Perugia, Italia; Correspondence[email protected]
View further author information
,
Francesco ArcioniOncoematologia Pediatrica, Ospedale Santa Maria della Misericordia, Perugia, Italia; View further author information
,
Antonietta PalmieriDipartimento di Scienze Cliniche e Biologiche, Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga, Torino, Italia; View further author information
,
Ylenia BarbaneraDipartimento di Medicina, Ematologia, Università degli Studi di Perugia, Perugia, Italia; View further author information
,
Laura CeccuzziDipartimento di Medicina, Ematologia, Università degli Studi di Perugia, Perugia, Italia; View further author information
,
Cecilia AdamiServizio Immunotrasfusionale, Ospedale Santa Maria della Misericordia, Terni, Italia; View further author information
,
Mauro MarchesiServizio Immunotrasfusionale, Ospedale Santa Maria della Misericordia, Perugia, Italia; View further author information
,
Antonella AngiusClinica Pediatrica, Ospedale Santa Maria della Misericordia, Perugia, ItaliaView further author information
,
Olivia MinelliServizio Immunotrasfusionale, Ospedale Santa Maria della Misericordia, Perugia, Italia; View further author information
,
Marina OnoratoServizio Immunotrasfusionale, Ospedale Santa Maria della Misericordia, Perugia, Italia; View further author information
,
Antonio PigaDipartimento di Scienze Cliniche e Biologiche, Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga, Torino, Italia; View further author information
,
Maurizio CanigliaOncoematologia Pediatrica, Ospedale Santa Maria della Misericordia, Perugia, Italia; View further author information
,
Cristina MecucciDipartimento di Medicina, Ematologia, Università degli Studi di Perugia, Perugia, Italia; View further author information
&
Antonella RoettoDipartimento di Scienze Cliniche e Biologiche, Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga, Torino, Italia; View further author information
 show all
Pages 371-376 | Received 12 Oct 2016, Accepted 09 Dec 2016, Published online: 31 Mar 2017

References

  • Angastiniotis M, Eleftheriou A, Galanello R, et al. Prevention of thalassaemias and other haemoglobin disorders: Vol. 1: Principles, 2nd ed. Nicosia: Cyprus: Thalassemia International Federation; 2013.
  • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
  • Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331–4336.
  • Weatherall DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Ann N Y Acad Sci. 2010;1202:17–23.
  • Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011775. doi: 10.1101/cshperspect.a011775. (http://perspectivesinmedicine.cshlp.org/).
  • Modell B, Darlison M, Birgens H, et al. Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 2007;67(1):39–69.
  • Giordano PC, Harteveld CL, Bakker E. Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies. IJERPH. 2014;11(6):6136–6146.
  • Angastiniotis M, Vives Corrons JL, Soteriades ES, et al. The impact of migrations on the health services for rare diseases in Europe: the example of haemoglobin disorders. Sci World J. 2013;2013:727905. doi: 10.1155/2013/727905.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74(12):5463–5467.
  • Old J, Harteveld CL, Traeger-Synodinos J, et al. Prevention of thalassaemias and other haemoglobin disorders: Vol. 2: Laboratory protocols, 2nd ed. Nicosia: Cyprus: Thalassemia International Federation; 2012.
  • Molchanova TP, Pobedimskaya DD, Ye Z, et al. Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes. Am J Hematol. 1994;45(4):345–346.
  • Guide to the Municipalities, Provinces and Regions of Italy (available from: http://www.tuttitalia.it/statistiche/popolazione-andamento-demografico/).
  • Torres LS, Okumura JV, Silva DG, et al. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2):120–126.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.