A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population

Akhavan‐Niaki, Haleh; Derakhshandeh-Peykar, Poupak; Banihashemi, Ali; Mostafazadeh, Amrollah; Asghari, B; Ahmadifard, Mohammad-Reza; Azizi, Mohammad; Youssefi, A.; Elmi, Maryam

doi:10.1016/j.bcmd.2011.03.005

Cited by 54 publications

(34 citation statements)

References 21 publications

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“…Unlike the previous studies conducted in the western, northern and southern provinces of Iran, where the IV-SII-1 (G-A) was the common detected mutation [5,8,13,14], the most common detected mutations in our study were CD 36 -37 (-T) and -α 3.7 /αα. The mutations reported in these studies are associated with diversity of mutation types in different geographical regions in Iran.…”

Section: Discussioncontrasting

confidence: 94%

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Prevalence of Alpha and Beta-Thalassemia Mutations Among Carriers of Thalassemia in Shadegan City, Southwest of Iran

Doosti-Irani

Cheraghi

Saied

et al. 2015

Zahedan J Res Med Sci

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Background:We aimed to investigate the alpha and beta-thalassemia mutations and assess the association of hematologic indices with mutations. Patients and Methods:In this cross sectional study, we assessed 275 suspected thalassemia carriers. Amplification refractory mutation system-polymerase chain reaction and Gap PCR were used for detection of mutations.Results: CD 36 -37 (-T) and -α3.7/αα were most common mutations. Mean of corpuscular hemoglobin and corpuscular volume was less among beta-thalassemia carriers in comparison to alpha-thalassemia carriers (P = 0.001). Conclusions: Detected mutations were different from other regions in Iran. After iron therapy, mean of corpuscular volume (MCV) was < 69 fL and mean of corpuscular hemoglobin was < 23 pg, may be classified as beta-thalassemia carriers.

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Section: Discussioncontrasting

confidence: 94%

“…Thalassemia is unevenly distributed in Iran and varies considerably from area to another area [3,4]. Until now, more than ten types of beta-thalassemia mutations are reported in Iran [5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Alpha and Beta-Thalassemia Mutations Among Carriers of Thalassemia in Shadegan City, Southwest of Iran

Doosti-Irani

Cheraghi

Saied

et al. 2015

Zahedan J Res Med Sci

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“…The α2 IVS-I donor site deletion is considered to be a Mediterranean mutation (3,9,15) and Hb CS rather as a Middle Eastern, Mediterranean and Southeast Asian one (3,6,(16)(17)(18). However, the relatively high prevalence of each mutation (12.2 and 8.8%, respectively), analyzed in nondeletional α-globin genes of mild anemic patients, confirms the heterogeneity of the studied population, also previously reported in βthal carriers (19,20). However, these prevalences may not reflect the real frequencies of these point mutations as all studied patients presented mild hypochromic and microcytic anemia, while many carriers of α + -thal can have normal MCV and MCH values.…”

Section: Discussionsupporting

confidence: 82%

Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (−TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran

et al. 2012

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Hb Constant Spring (Hb CS, codon 142, TAA>CAA, α2) (HBA2:c.427T>C) and α2 IVS-I donor site (GAGGTGAGG>GAGG - - - - -) (HBA2:c.95+2_95+6delTGAGG) are nondeletional α-thalassemia (α-thal) mutations found all over the world. Identification of α-thal genotypes in at-risk couples for severe anemia or in highly heterogeneous populations requires rapid, accurate and cost-effective genotyping methods. In this study, a pair of primers were used to specifically amplify an 883 bp fragment from the α2-globin gene in order to simultaneously identify these two mutations by a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. We determined the genotypic frequencies of Hb CS and the α2 IVS-I donor site mutations after amplification and enzymatic digestion with Tru9I in 238 northern Iranian samples referred for α-thal testing. Hb CS and the α2 IVS-I donor site mutations accounted for 21 (8.8%) and 29 (12.2%) of the nondeletional cases. This genotyping assay has proven to be a rapid, reliable and useful diagnostic tool for simultaneous detection of these two anomalies for genetic counseling or further prenatal diagnosis.

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“…β-Thalassemia or thalassemia major is the most common hereditary blood disorder in the Mediterranean basin especially in Iran that has affected 25,000 individuals and has 4 to 5% prenatal carrier rate in total population (Mirmomen and Alavian, 2005;Rahimi et al, 2008;Akhavan-Niaki et al, 2011). Multi-transfusion in patients with thalassemia necessary for patient survival is at high risk for transfusion-associated infectious diseases such *Corresponding author.…”

Section: Introductionmentioning

confidence: 99%

A study on the serologic and molecular prevalence of hepatitis G virus (HGV) and hepatitis C virus (HCV) infections in patients with thalassemia in Larestan of Iran

Yaghobi¹,

Afkari²,

Mohsenzadeh³

et al. 2012

Afr. J. Microbiol. Res.

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Hepatitis G virus (HGV) and hepatitis C virus (HCV) infections may have role in introducing orcomplicating the clinical outcome in patients with thalassemia. In this study, the molecular and serological prevalence of HGV and HCV infections were evaluated in patients with thalassemia and compared with healthy controls. In a cross sectional study, the samples were collected from 86 patients with thalassemia and 100 healthy controls. The anti-HCV and HGV antibodies were evaluated by enzyme-linked immunosorbent assay (ELISA) methods. Also, the HGV and HCV viremia were analyzed in patients with thalassemia and controls by multiplex-nested-real time-polymerase chain reaction (RT-PCR) protocol. Our results showed that the anti-E2-HGV and HCV antibodies were found in 16 of 86 and 18 of 86 of thalassemia patients and none of controls, respectively. HGV viremia was diagnosed in 13 of 86 of patients with thalassemia and in 1of 100 of controls. HCV-RNA was diagnosed in 12 of 86 and 6 of 100 of thalassemia and healthy controls, respectively. The diagnosis of significant higher prevalence of HGV and HCV in patients with thalassemia compared with controls in this region of Iran emphasized the importance of these lymphotropic viral hepatitis infections in pathogenesis and outcome of thalassemia patients.

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A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population

Cited by 54 publications

References 21 publications

Prevalence of Alpha and Beta-Thalassemia Mutations Among Carriers of Thalassemia in Shadegan City, Southwest of Iran

Prevalence of Alpha and Beta-Thalassemia Mutations Among Carriers of Thalassemia in Shadegan City, Southwest of Iran

Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (−TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran

A study on the serologic and molecular prevalence of hepatitis G virus (HGV) and hepatitis C virus (HCV) infections in patients with thalassemia in Larestan of Iran

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