Alpha thalassaemia in an Italian population

C. Velati, M. Sampietro, M. Biassoni, M. D. Cappellini, J. S. Wainscoat, D. R. Higgs, G. Fiorelli

Research output: Contribution to journalArticle

Abstract

The incidence of α-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, α-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α-thalassaemia caused by a single α-globin gene deletion (-α). The molecular basis of α-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -α3.7 deletion type of α-thalassaemia and nine had nondeletion types of α-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

Original languageEnglish
Pages (from-to)497-501
Number of pages5
JournalBritish Journal of Haematology
Volume63
Issue number3
Publication statusPublished - 1986

Fingerprint

alpha-Thalassemia
Thalassemia
Globins
Population
Fetal Blood
Restriction Mapping
Gene Deletion
Incidence
Genes
hemoglobin Bart's

ASJC Scopus subject areas

  • Hematology

Cite this

Velati, C., Sampietro, M., Biassoni, M., Cappellini, M. D., Wainscoat, J. S., Higgs, D. R., & Fiorelli, G. (1986). Alpha thalassaemia in an Italian population. British Journal of Haematology, 63(3), 497-501.

Alpha thalassaemia in an Italian population. / Velati, C.; Sampietro, M.; Biassoni, M.; Cappellini, M. D.; Wainscoat, J. S.; Higgs, D. R.; Fiorelli, G.

In: British Journal of Haematology, Vol. 63, No. 3, 1986, p. 497-501.

Research output: Contribution to journalArticle

Velati, C, Sampietro, M, Biassoni, M, Cappellini, MD, Wainscoat, JS, Higgs, DR & Fiorelli, G 1986, 'Alpha thalassaemia in an Italian population', British Journal of Haematology, vol. 63, no. 3, pp. 497-501.
Velati C, Sampietro M, Biassoni M, Cappellini MD, Wainscoat JS, Higgs DR et al. Alpha thalassaemia in an Italian population. British Journal of Haematology. 1986;63(3):497-501.
Velati, C. ; Sampietro, M. ; Biassoni, M. ; Cappellini, M. D. ; Wainscoat, J. S. ; Higgs, D. R. ; Fiorelli, G. / Alpha thalassaemia in an Italian population. In: British Journal of Haematology. 1986 ; Vol. 63, No. 3. pp. 497-501.
@article{a321f4fe6345469c8c6f3530dd2c5139,
title = "Alpha thalassaemia in an Italian population",
abstract = "The incidence of α-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3{\%}) had detectable amounts of Hb Bart's. Furthermore, α-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α-thalassaemia caused by a single α-globin gene deletion (-α). The molecular basis of α-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -α3.7 deletion type of α-thalassaemia and nine had nondeletion types of α-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.",
author = "C. Velati and M. Sampietro and M. Biassoni and Cappellini, {M. D.} and Wainscoat, {J. S.} and Higgs, {D. R.} and G. Fiorelli",
year = "1986",
language = "English",
volume = "63",
pages = "497--501",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley & Sons, Ltd (10.1111)",
number = "3",

}

TY - JOUR

T1 - Alpha thalassaemia in an Italian population

AU - Velati, C.

AU - Sampietro, M.

AU - Biassoni, M.

AU - Cappellini, M. D.

AU - Wainscoat, J. S.

AU - Higgs, D. R.

AU - Fiorelli, G.

PY - 1986

Y1 - 1986

N2 - The incidence of α-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, α-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α-thalassaemia caused by a single α-globin gene deletion (-α). The molecular basis of α-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -α3.7 deletion type of α-thalassaemia and nine had nondeletion types of α-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

AB - The incidence of α-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, α-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α-thalassaemia caused by a single α-globin gene deletion (-α). The molecular basis of α-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -α3.7 deletion type of α-thalassaemia and nine had nondeletion types of α-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

UR - http://www.scopus.com/inward/record.url?scp=0022459188&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022459188&partnerID=8YFLogxK

M3 - Article

C2 - 3755350

AN - SCOPUS:0022459188

VL - 63

SP - 497

EP - 501

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 3

ER -