Elucidating the spectrum of  -thalassemia mutations in Iran

Hadavi, Valeh; Taromchi, Amir Hossein; Malekpour, Mahdi; Gholami, Behjat; Law, Hai Yang; Almadani, Navid; Afroozan, Fariba; Sahebjam, Farhad; Pajouh, Parisa; Kariminejad, Roxana; Kariminejad, Mohammad Hassan; Azarkeivan, Azita; Jafroodi, Maryam; Tamaddoni, Ahmad; Puehringer, Helene; Oberkanins, Christian; Najmabadi, Hossein

doi:10.3324/haematol.10658

Cited by 46 publications

(28 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In Guvenc et al's study, −(α) 20.5 mutation was the fourth most commonly seen mutation in 225 individuals carrying α-thalassemia allele or alleles [8]. It has also been reported rarely in the south Asia, Middle East and Arab countries [19][20][21][22][23][24].…”

Section: Resultsmentioning

confidence: 90%

See 1 more Smart Citation

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

View full text Add to dashboard Cite

Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct α-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -α3.7 (52.28 %), -(α)20.5 (14.74 %), --MED (10.53 %), and αPA-1α (8.77 %). Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.

show abstract

Section: Resultsmentioning

confidence: 90%

“…--MED mutation seems to be specific to Mediterranean areas. It has been reported among the first three or four most frequent mutations in Mediterranean and Middle Eastern populations whereas it has not to been seen in Far Eastern populations [7,16,17,19,20,24,26].…”

Section: Resultsmentioning

confidence: 93%

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

View full text Add to dashboard Cite

show abstract

“…[13][14][15] The commonest type of α-thalassemia seen in Iran is -α 3.7 deletion. At our hospital, the overall frequencies of α-thalassemia and β-thalassemia among microcytic, hypochromic anemia patients are 57% and 25.8%, respectively Hadavi et al [16] have reported the prevalence of -α 3.7 deletion to be 30.2% in the population of Iran (87 million). Our data showed the prevalence of -α 3.7 deletion to be 20% in the population of southwest (Khuzestan) region of Iran (4.3 million).…”

Section: Discussionmentioning

confidence: 99%

“…Hadavi et al [16] have reported -α 4.2 deletion in Iranian subjects, with a prevalence of 3.5%. Najmabadi et al [17,18] have reported the prevalence of IVS-II-I (G > A) beta-thalassemia mutation to be 34% in the population of Iran.…”

Section: Discussionmentioning

confidence: 99%

Microcytic hypochromic anemia patients with thalassemia : Genotyping approach

Rahim¹

2009

Indian J Med Sci

View full text Add to dashboard Cite

“…Fetus DNA was extracted from 3 ml amniotic fluid by using NucleoSpin Isolation Kit. Detection of known β-globin gene mutations was done using a commercialized reverse dot blot platform cd 142 (TAA>TCA) (Hb Koya Dora), α2 poly A-1 (AATAAA-AATAAG) and α2 poly A-2 (AATAAA-AATGAA) (Hadavi et al, 2007). Maternal contamination was eliminated using ChromoQuant version 2 kit (CyberGene AB, Sweden).…”

Section: Methodsmentioning

confidence: 99%

Thalassemia mutations in Gaziantep, Turkey

Pehlıvan¹,

Okan²,

Güler³

et al. 2010

Afr. J. Biotechnol.

View full text Add to dashboard Cite

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (−AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, α-thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally, this is the first comprehensive study in this region and percentage of α and β-globin genes mutation is 2.6 and 79.4%, respectively.

show abstract

Elucidating the spectrum of -thalassemia mutations in Iran

Cited by 46 publications

References 8 publications

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Microcytic hypochromic anemia patients with thalassemia : Genotyping approach

Thalassemia mutations in Gaziantep, Turkey

Contact Info

Product

Resources

About