Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran.
Iran
Mazandaran
alpha-thalassemia
mutation
thalassemia
Journal
Journal of clinical laboratory analysis
ISSN: 1098-2825
Titre abrégé: J Clin Lab Anal
Pays: United States
ID NLM: 8801384
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
18
05
2019
revised:
04
08
2019
accepted:
05
08
2019
pubmed:
4
9
2019
medline:
7
10
2020
entrez:
4
9
2019
Statut:
ppublish
Résumé
It is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha-thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha-globin mutations in potential carriers with hypochromic and microcytic anemia from Mazandaran, in northern Iran. A total of 859 subjects were selected; genomic DNA was extracted and examined for the presence of mutations in the alpha-globin genes. Mutation analysis of alpha-globin genes revealed 27 different mutations. Seven variants were seen in 91.45% of all alpha-1 and alpha-2 mutations among patients in this study. The 3.7 kb deletion is the most frequent mutation with a frequency of 49.53%, followed by PolyA2 (15.19%), -4.2 deletion (8.76%), --MED (5.84%), IVSI-5nt deletion (5.49%), Hb constant spring (3.62%), and Cd 19 (-G; 3.04%), respectively. There are also seven new variants which were reported for the first time either in alpha-1 or alpha-2 genes, including codon 9 (C > A; α2), deletion of codon 60 (AAG deletion; α2), duplication of codon 94-100 plus 3 base pairs of intron 2 (IVSII + 3; α1), codon 99 (C > A; α2), codon 108 (A > G; α2), codon 128 (A > T; α2), and codon 129 (T > G; α2), respectively. The MLPA method also revealed three rare and novel deletions in alpha-cluster region with about 30 kilobases long. This study showed an efficient identification of α-thalassemia can be achieved using standard hematological indices in our population. The details of these variations will help local genetic services for diagnostic and prenatal diagnosis services.
Sections du résumé
BACKGROUND
BACKGROUND
It is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha-thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha-globin mutations in potential carriers with hypochromic and microcytic anemia from Mazandaran, in northern Iran.
METHODS
METHODS
A total of 859 subjects were selected; genomic DNA was extracted and examined for the presence of mutations in the alpha-globin genes.
RESULTS
RESULTS
Mutation analysis of alpha-globin genes revealed 27 different mutations. Seven variants were seen in 91.45% of all alpha-1 and alpha-2 mutations among patients in this study. The 3.7 kb deletion is the most frequent mutation with a frequency of 49.53%, followed by PolyA2 (15.19%), -4.2 deletion (8.76%), --MED (5.84%), IVSI-5nt deletion (5.49%), Hb constant spring (3.62%), and Cd 19 (-G; 3.04%), respectively. There are also seven new variants which were reported for the first time either in alpha-1 or alpha-2 genes, including codon 9 (C > A; α2), deletion of codon 60 (AAG deletion; α2), duplication of codon 94-100 plus 3 base pairs of intron 2 (IVSII + 3; α1), codon 99 (C > A; α2), codon 108 (A > G; α2), codon 128 (A > T; α2), and codon 129 (T > G; α2), respectively. The MLPA method also revealed three rare and novel deletions in alpha-cluster region with about 30 kilobases long.
CONCLUSION
CONCLUSIONS
This study showed an efficient identification of α-thalassemia can be achieved using standard hematological indices in our population. The details of these variations will help local genetic services for diagnostic and prenatal diagnosis services.
Identifiants
pubmed: 31478238
doi: 10.1002/jcla.23018
pmc: PMC6977355
doi:
Substances chimiques
alpha-Globins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e23018Subventions
Organisme : Mazandaran University of Medical Sciences
ID : 88-47
Informations de copyright
© 2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.
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