An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran (original) (raw)
Related papers
Spectrum of α-thalassemia mutations in Qazvin Province, Iran
AFRICAN JOURNAL OF BIOTECHNOLOGY, 2011
α-Thalassemia is a widespread inherited disease particularly prevalent in the middle East Asia population, including Iran. The aim of this study was to define the molecular spectrum and frequency of α-thalassemia mutations in prospective couples of Qazvin province. A total of 120,000 subjects were studied during 10 years (1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007)(2008). Individuals present with hypochromic and microcytic parameters with normal haemoglobin α-2 (HbA2), without iron deficiency were included in the study. Molecular detection of α-globin mutations were performed by gap-PCR, reverse dot blot hybridization (RDB) and sequencing. Results show that six different kinds of mutations are present in this region. In 22 subjects, most prevalent α-thalassemia mutations were α -3.7 , followed by α -20.5 and α 5nt . Most α-thalassemia couples had consanguineous relationships and Kordish ethnicity. In conclusion, in spite of relatively low incidence of α-thalassemia mutations in Qazvin province, the spectrum and frequency of mutations are different from other parts of Iran. It might be due to migration of several ethnic groups to Qazvin.
Molecular Basis of α-Thalassemia in Iran
Iranian Biomedical Journal, 2018
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the frequency and distribution of α-globin mutations in various regions of the country have been studied in recent years. A comprehensive search was performed in PubMed, Scopus, and national databases for finding reports on mutation detection in α-thal carriers and HbH disease with Iranian origin. The mutation data of 10849 α-thal carriers showed that -α3.7 and α-5NT were the most common deletional and nondeletional mutations, respectively. In HbH disease cases, the -α3.7/--MED was the most prevalent genotype. Overall, 42 different mutations have been identified in α-globin cluster reflecting the high heterogeneity o...
Hemoglobin, 2017
a-Thalassemia (a-thal) is the most common monogenic disease that is caused by the absence or reduced expression of a-globin genes. The aim of this study was to investigate common a-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for a-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing. Of the nine different mutations found, the most frequent were-a 3.7 (rightward deletion) (45.6%), polyadenylation site (a plyA2 a) (a2) (AATAAA>AATGAA; HBA2: c. Ã 92 A>G) (15.27%),-MED (Mediterranean deletion) (6.86%),-a 4.2 (leftward deletion), (6.17%), a CS a [Hb Constant Spring (Hb CS) (HBA2: c.427 T>C)] (4.62%),-a À5 nt (HBA2: c.95þ2_95þ6delTGAGG) (3.70%). All chromosomes bearing an a-globin point mutation [a plyA2 a,-a À5 nt a, a CS a, a plyA1 a (AATAAA> AATAAG; HBA2: c. Ã 94 A>G)] showed only one haplotype that was present in most normal chromosomes, while the-a 3.7 deletion was associated with three distinct haplotypes. Our results indicate that a-thal mutations are heterogeneous and-a 3.7 and a plyA2 a are the most prevalent mutations in this region. The presence of-a 3.7 with three different haplotypes suggests an older history for this mutation. The high prevalence of a plyA2 a in Mazandaran Province, Iran compared to other parts of the country and the world, suggests a founder effect. Altogether, we here provide further data confirming the heterogeneity of the northern population of Iran. These data may contribute to the establishment of a national mutation database, more accurate genetic counseling and prenatal diagnosis (PND).
Thrombosis Journal
Background Alpha-thalassemia (α-thalassemia) is one of the most common monogenic diseases in Saudi Arabia and is associated with significant morbidity. Premarital testing programs in Saudi Arabia reduce the burden of hemoglobinopathy disorders, and ongoing monitoring is required. We aimed to explore the molecular nature of α-globin genes and identify the most common genotypes and regions with a high risk of α-thalassemia in Saudi Arabia. Methods This retrospective study was conducted between January 2021 and December 2022. Six hundred twenty-five samples from patients with microcytic hypochromic anemia in Saudi Arabia were analyzed using reverse dot blot hybridization (RDBH)-based multiplex-PCR, which screens for the known 21 mutations of α-globin genes. Results Seven mutations in the α-globin gene were identified in 88.96% (556) patients. The most frequent abnormality of a-globin genes was −α3.7 (62.3%), followed by α2IVS1(−5nt) (20.7%) and α2 polyA-1 (α2T.Saudi) (14.1%). Interesti...
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012
Hematology, 2013
Aim: Alpha thalassemia is one of the most prevalent disorders worldwide and carrier frequency of the disease is varied in different parts of the world. Although different studies in Iran and Mazandaran province have been carried out to identify different mutations of alpha globin gene among people with low hematological indices, frequencies of these mutations were unknown in general population, and thus the aim of this study was to evaluate the carrier frequencies of alpha globin gene mutations among neonates in Mazandaran. Material and methods: Four hundred and twelve neonates were collected from a delivery ward of a hospital in Sari. DNA was extracted from their cord blood samples using phenol-chloroform-based method. For the detection of five common alpha thalassemia gene mutations, multiplex-GAP-PCR and PCR-RFLP methods were applied. Results: Sixty three (15.29%, confidence interval, CI 95%: 11.81-18.77) of investigated neonates had at least one of the five evaluated mutations. The-α 3.7 deletion had the highest frequency (9.7%, CI 95%: 6.84-12.56) and none of the neonates had-Med double gene deletion. The-α 4.2 deletion, ααα anti3.7 triplication, and α −5nt mutations had frequencies of 4.1% (CI 95%: 2.19-36.01), 2.2% (CI 95%: 0.78-3.62), and 0.49% (CI 95%: −0.18-1.16), respectively. Discussion: Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα anti3.7 triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia.
Distribution of β-Thalassemia Mutations in the Northern Provinces of Iran
Hemoglobin, 2007
Background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. The aim of the present study was to identify the distribution and frequency of the most common β-thalassemia mutations among the population of Isfahan Province in central Iran. Methods: The data presented here were derived from a total of 114 β-thalassemia chromosomes of 18 affected patients and 78 unrelated carriers identified in our screening program. Furthermore, 23 pregnant women were analyzed among couples with a PND request for β-thalassemia. Allele identification was carried out using routine Reverse Dot Blot, ARMS, and genomic sequencing.
Alpha thalassemia genotypes in Kuwait
2020
Background The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred for molecular diagnosis over a 20-year period. Methods This is a retrospective study of the α-globin genotypes obtained in the Hemoglobin Research Laboratory of the Department of Pediatrics, Kuwait University from 1994 to 2015. Genotyping was performed by a combination of PCR, allele-specific oligonucleotide hybridization and reverse dot blot hybridization (Vienna Lab Strip Assay). Results Four hundred samples were characterized and analyzed from individuals aged < 1 month to 80 years, with a median of 6 years from 283 unrelated families. Most (90.8%) were Kuwaiti nationals. The commonest genotype was homozygosity for the polyadenylation-1 mutation (α PA-1 α/α PA-1 α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1 α) for the same mutation in 32.3%. ...
Spectrum of Mutations of Thalassemia among Couples from Izeh City, Khuzestan Province, Iran
Iranian Journal of Blood and Cancer, 2020
1Department of Clinical Biochemistry, Faculty of Medicine, Ahvaz Jundishapur University of Medical Science, Ahvaz, Iran 2Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran 3School of Nursing and Midwifery, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran 4Department of Hematology, School of Para Medicine, Bushehr University of Medical Sciences, Bushehr, Iran 5Blood Transfusion Organization, Bushehr, Iran 6Department of Midwifery, Faculty of Nursing and Midwifery, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran 7Department of Genetics, Qazvin University of Medical Sciences, Qazvin, Iran
2014
Background: β-thalassemias are prevalent heritable single gene disorders affecting the quantity of the hemoglobin molecule. Rarely, a co-inheritance of these impairments with α-thalassemia and/or a hemoglobinopathy occurs and makes an important double heterozygote or homozygous state. Thus finding these cases is essential for genetic counseling. The present study aimed to identify the prevalence of coexistent α-thalassemia mutations, hemoglobinopathies, and β-thalassemia determinants. Methods: This descriptive study was performed on 5760 patients. We used complete blood cell count, Hb electrophoresis, and HbA2 measurement for thalassemia carrier identification. Increased HbA 2 (≥ 3.5%) is the standard diagnostic marker for β-thalassemia, while normal HbA 2 with low MCH and MCV can indicate an α-thalassemia carrier or atypical β-thalassemia minor. Individuals with MCV ˂ 80 fL, MCH ˂ 27 pg, and hemoglobin ≤ 15.3 g/dL in men or ≤ 14 g/dL in women, were candidates for molecular thalassemia investigations. Patients with abnormal hemoglobin varieties in hemoglobin electrophoresis were referred to a genetics laboratory for hemoglobinopathy detection. Results: 141 subjects out of 5760 were affected by α and β-thalassemia or a β-hemoglobinopathy simultaneously, including: 13 (11.1%) fetuses, 55 (38.2%) male cases, and 73 (50.7%) females. Among these 141 α-thalassemia patients, 92 cases (65.24% ) were β-thalassemia carriers and 3 (2.12% ) were β-thalassemia major, 43(30.49%) had β-hemoglobinopathies, and 3 cases (2.12%) had co-inherited β-thalassemia and variant hemoglobins. 31 β-gene mutations were observed in this population, the most common being HbS Cd6 (A > T) ( 24%). These thalassemia determinants account for about 46% of all detected mutations. As for α-gene mutations, -3.7 detection was the most prevalent. Conclusions: The relatively high prevalence of co-inherited α-thalassemia and hemoglobinopathies among β-thalassemia carriers indicates the importance of molecular analysis to diagnose these double heterozygous or sole homozygous cases for prenatal diagnostic purposes and putting forth strategies to prevent more complicated and dangerous combinations. (Clin. Lab. 2014;60:941-949.