Comprehensive Spectrum of the β-Thalassemia Mutations in Khuzestan, Southwest Iran

Galehdari, Hamid; Salehi, Bahaoddin; Azmoun, Somaiyeh; Keikhaei, Bijan; Zandian, Khoda Morad; Pedram, Massoud

doi:10.3109/03630269.2010.514153

Cited by 18 publications

(8 citation statements)

References 17 publications

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“…Hb D-Punjab was detected as the second prevalent structural variant in southern province of Khuzestan [24]. Mild clinical presentation of this variant in homozygous and combined heterozygous state with a β 0 -thalassemic mutation and also with concomitant presence of α - and β 0 -thalassemia mutations have been indicated [22].…”

Section: Structural Variantsmentioning

confidence: 99%

“…In reports from three ethnic groups of Southern provinces of Fars, Hormozgan, and Khuzestan different spectrum and prevalence of β -thalassemia mutations were obtained [24, 37, 40–42]. In the Fars province (with ethnic background of Fars) IVS II-1 G:A and IVS I-6 T:C were the most prevalent β -thalassemic mutations with the frequencies of 31 and 15%, respectively, among 10 different mutations that were found in 26 studied chromosomes that suggested a genetic admixture and migrations for the presence of high number of β -thalassemic mutations in this area [40].…”

Section: Thalassemiamentioning

confidence: 99%

“…In this province due to malaria selection and high rates of consanguineous marriages hemoglobinopathies are common [12]. In another southern province of Khuzestan with Arab ethnic background three most common mutations including CD 36/37-T, IVS-II-1 G:A, and IVS-I-110 G:A at a frequency of 20.5, 20.0, and 14.2%, respectively, were detected [24]. The picture of β -thalassaemia mutations in this province is heterogenic with detecting 42 different types of mutations [24].…”

Section: Thalassemiamentioning

confidence: 99%

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Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Rahimi

2013

BioMed Research International

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There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with −α 3.7 kb as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

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Section: Structural Variantsmentioning

confidence: 99%

Section: Thalassemiamentioning

confidence: 99%

Section: Thalassemiamentioning

confidence: 99%

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Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Rahimi

2013

BioMed Research International

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“…In patients without mutation, Sanger sequencing was performed to identify undetected mutations. DNA was amplified by PCR using specific primers as described by Galehdari et al, and PCR products were sequenced with an ABI 3730 DNA analyzer (Applied Biosystems Inc., CA, USA) (12). Individuals with low mean corpuscular volume (MCV80.0 fL), mean cell Hb (MCH) of less than 27.0 pg, normal Hb A2 and normal iron levels were suspected to be -thalassemia carriers.…”

Section: Methodsmentioning

confidence: 99%

Prevalence of Hemoglobin Mutations and Hemoglobinopathies in Masjed Soleiman County, Southeastern Iran

2019

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Background and Objectives: Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran.Methods: This descriptive study was carried out on 456 individuals suspected of having hemoglobinopathies who were referred to health centers of the Masjed Soleiman Country in 2015-2017. Blood samples were collected in EDTA tubes. Complete blood count test was performed and red blood cell indices were determined. Level of Hb variants was measured using capillary electrophoresis. Reverse dot-blot, gap-polymerase chain reaction and Sanger sequencing were carried out to detect mutations.Results: We found that 17.7% of the subjects were heterozygous for β-thalassemia. Frequency of mutations 36/37 (-T), IVS-II-1 (G>A) and IVS-I-110 (G>A) in the β-globin gene was 26.7%, 22% and 16.27%, respectively. In addition, 9.5% of the subjects contained Hb S, Hb D and Hb C, while 1.1% of the subjects showed co-inheritance of an Hb variant and β-thalassemia. In subjects with α-thalassemia, the -α3.7 (57.1%), --MED -(17.4%), -α 4.2 (3.1%) and -α 20.5 (1.5%) deletions were found as the most prevalent mutations.Conclusion: In addition to the high prevalence of β-thalassemia and HBB gene mutations, we detected variants Hb S, Hb D, Hb C and co-inheritance of an Hb variants and βthalassemia in individuals living in the Masjed Soleiman Country. We also identified four mutations in the α-globin gene. These results can be useful for genetic counseling in this population.

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“…The mean prevalence of this disease in India is 3.3%. It has become much more common recently in northern and central Europe, including Germany, due to immigration [1][2][3]. The thalassemias refer to a diverse group of hemoglobin disorders characterized by a reduced synthesis of one or more of the globin chains (α, β, γ, δβ, γδβ, δ, and εγδβ).…”

Section: General Introductionmentioning

confidence: 99%

Modifiers of γ-Globin Gene Expression and Treatment of β-Thalassemia

Munshi¹,

Dadeech²,

Babu³

et al. 2015

Inherited Hemoglobin Disorders

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Beta thalassemia (β-thalassemia) is an autosomal recessive genetic disease with many genes involved. It is a heterogeneous disorder caused by variations in the inactivation mechanism of the Beta-globin (β-globin) genes. Despite seemingly similar genotypes, the patients with Beta-thalassemia have a remarkable variability in anaemia, growth development, and hepatospleenomegaly and transfusion requirements. The genetic factors may differ in each race or ethnic group for therapy and prevention. Despite remarkable successes in the treatment of Beta-thalassemia in the past decades, it is still the leading cause of death and premature disability in developed and developing countries. Possible factors that influence the severity of anaemia in thalassemia may be inherited or non-inherited. The inherited factors include the type of β-thalassemia, coinheritance of alpha thalassemia (α-thalassemia) and factors that stimulate fetal hemoglobin (HbF) production. In this chapter, respective contributions of known modifiers and also the pharmaceutical agents currently in use and under clinical trials for regulating the globin gene expression will be discussed.

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Comprehensive Spectrum of the β-Thalassemia Mutations in Khuzestan, Southwest Iran

Cited by 18 publications

References 17 publications

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Prevalence of Hemoglobin Mutations and Hemoglobinopathies in Masjed Soleiman County, Southeastern Iran

Modifiers of γ-Globin Gene Expression and Treatment of β-Thalassemia

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