Elucidation of βs/ Globin Gene clusters Haplotypes Related to Sickle Cell Anemia in Khuzestan Province, Southwest of Iran
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چکیده مقاله:
Background & objectives: The researcher clarified that β/Globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. Materials and methods: A total of 150 subjects was investigated in two different groups for five polymorphism restriction sites of the beta Globin gene cluster. The first groups 100 cases were examined in March 2008 and the second groups 50 cases in May 2010. ETDA blood was taken and DNA was prepared from subjected leukocytes and the βs gene cluster were amplified via polymerase chain reaction (PCR) using a DNA TM KIT. The sickle mutation eliminates the recognition sequence of this enzyme. Results: Both studies showed five haplotypes exist in a population of one hundred and fifty sickle cell anemia patients (300 chromosomes). The Arab-Indian haplotype was found to be the highest ranking in prevalence (43.66). The second most common haplotype was the Benin haplotype (24.66%) followed by the Bantu haplotype (18%) and the Cameron haplotype which was ranked fourth (7.66%). The Senegal haplotype was ranked fifth in terms of prevalence (5.33%). Conclusions: The overall conclusion from the SCA gene analysis in Khuzestan showed a spectrum of all 5 haplotype types of the African, Arab-Indian sickle cell haplotype which produced various types of homozygote and heterozygote admixture SCAs with various mild to very severe clinical course and clinical manifestation in the region. It is best recommended that the history, patient’s exam, CBC, RBC indices, hemoglobin electrophoresis, sickle preparation, DNA mutation analysis, haplotype determination and family pedigree be taken into account.
منابع مشابه
elucidation of βs/ globin gene clusters haplotypes related to sickle cell anemia in khuzestan province, southwest of iran
background & objectives: the researcher clarified that β/globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. materials and methods: a total of 150 subjects was investigated in two different groups for five polymorphism restriction sites of t...
متن کاملBeta-Globin Gene Cluster Haplotypes in Iranian Sickle Cell Patients: Relation to Some Hematologic
Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in...
متن کاملHaptoglobin gene polymorphisms in sickle cell disease patients with different βS-globin gene haplotypes.
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متن کاملInfluence of βS-Globin Haplotypes and Hydroxyurea on Arginase I Levels in Sickle Cell Disease
Introduction. Sickle cell disease (SCD) is characterized by hemoglobin S homozygosity, leading to hemolysis and vasoocclusion. The hemolysis releases arginase I, an enzyme that decreases the bioavailability of nitric oxide, worsening the symptoms. The different SCD haplotypes are related to clinical symptoms and varied hemoglobin F (HbF) concentration. The aim of this study was to evaluate the ...
متن کاملComment on "Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia".
See paper by Laurentino MR et al. on pages 121-5. *Corresponding author at: Departamento de Biologia, Laboratório de Hemoglobinas e Genéticadas Doenças Hematológicas, Universidade Estadual Paulista, Rua Cristóvão Colombo, 2265, Jardim Nazareth, 15054-000, São José do Rio Preto, SP, Brazil. E-mail address: [email protected] (L. S. Torres). 1516-8484/$ see front matter © 2014 Associação Br...
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عنوان ژورنال
دوره 1 شماره 2
صفحات 7- 11
تاریخ انتشار 2012-12-01
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