Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy)‎ Following Recent Migration Movements

Joint Authors

Zaghis, Ivo
Grisanti, Paola
Cappabianca, Maria Pia
Colosimo, Alessia
Lerone, Maria
Ponzini, Donatella
Perri, Maria
Amato, Antonio

Source

Advances in Hematology

Issue

Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-5, 5 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2010-10-05

Country of Publication

Egypt

No. of Pages

5

Main Subjects

Diseases
Medicine

Abstract EN

The aim of this study was to describe the changing pattern of mutational spectrum of β-thalassemia (β-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations.

From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes and 65 homozygotes or compound heterozygotes) coming from 44 different foreign countries, have been molecularly characterized.

14 β-globin gene mutations were identified and their frequencies reflect different ethnic origins: 8 of these mutations account for 76.97% of all molecular defects, while 6 of them are much rare, representing less than 2% of the total.

These data differ, both in type and percentage, from the mutational spectrum detected in the native population in 1995.

Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group.

American Psychological Association (APA)

Amato, Antonio& Cappabianca, Maria Pia& Colosimo, Alessia& Perri, Maria& Grisanti, Paola& Zaghis, Ivo…[et al.]. 2010. Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements. Advances in Hematology،Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-463016

Modern Language Association (MLA)

Amato, Antonio…[et al.]. Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements. Advances in Hematology No. 2010 (2010), pp.1-5.
https://search.emarefa.net/detail/BIM-463016

American Medical Association (AMA)

Amato, Antonio& Cappabianca, Maria Pia& Colosimo, Alessia& Perri, Maria& Grisanti, Paola& Zaghis, Ivo…[et al.]. Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements. Advances in Hematology. 2010. Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-463016

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-463016