RARE AND NEW MUTATIONS
OF Β-GLOBIN IN AZARI POPULATION OF IRAN,
A CONSIDERABLE DIVERSITY
Abbasali F.H.1, Mahmoud K.Sh.2,3, Hengameh N.3, Mina D.H.3, Setare D.3, Hale D. M3, Sima D.M.2,3*
*Corresponding Author: MD.PhD Sima Mansoori Derakhshan, Department of Medical Genetics, Faculty
of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran, & Ebne Sina Medical Genetics Laboratory,
Specialized and Sub-specialized Outpatient Clinics, Tabriz
page: 51
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CONCLUSION
Over the course of the last decade, multiple studies
have been conducted about the frequency and distribution
of the mutations in the beta-globin gene among many
geographic areas of Iran. These data have been used to
organize a country-wide network for the detection of the
molecular patterns of beta-thalassemia carriers and patients
in the population of a country like Iran, one that
has very diverse ethnicities and races living together.
Currently, there are many molecular diagnostic centers
in Iran performing the prenatal molecular diagnosis of
the beta-thalassemia aimed at reducing the population of
the patients with transfusion-dependent beta-thalassemia.
Genetic counseling and identification of new mutations
which cause clinically significant disease, together
with PND are the best methods for effectively controlling
the disease and prevention from the birth of new cases in the
community. In Iran all of these services are routinely available.
Finding new mutations showed that there are several
rare mutations that can be easily missed during the screening
of beta-thalassemia carriers, thus it is recommended
to consider these mutations in the screening protocols for
detection of the beta-thalassemia carriers, not only in Northwest
Iran but also in other regions and provinces, as well
as in nearby countries, due to the increased immigrations.
Acknowledgements
The authors acknowledge the support from the Iranian
national thalassemia screening committee for registration
of the at-risk couples. The authors would like to thank all
the participating laboratory technicians for their technical
assistance in performing the molecular tests. The authors
also appreciate all the participants for their contributions
in this work.
Authors’ Contribution
HN, MK, SD, and HMD collected the samples from
the patients, analyzed the hematologic parameters, and
60
DIVERSITY AMONG THE RARE Β-GLOBIN VARIANTS IN IRAN
performed the molecular tests. MSK was involved in the
data collection and resources management. AHPF was
involved in the review of the literature and writing the
manuscript. SMD supervised all the performed molecular
tests and data analyses and was involved in the review of
the literature and providing the manuscript draft. All the
authors read and approved the final manuscript. Funding
This study did not receive funding from any organizations.
Compliance with ethical standards
Research involving human participants or animals
This study was conducted in accordance with the
Helsinki II declaration of good clinical practice.
Conflict of interest
The authors declare that they have no conflicts of
interests.
Informed consent
Each subject signed an informed consent before participating
in this study.
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