Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

Puehringer, Helene; Najmabadi, Hossein; Law, Hai Yang; Krugluger, Walter; Viprakasit, Vip; Pissard, Serge; Baysal, E.; Taher, Ali T.; Farra, Chantal; Al-Ali, Amein K.; Al-Ateeq, Suad; Oberkanins, Christian

doi:10.1515/cclm.2007.125

Cited by 40 publications

(33 citation statements)

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“…Gene deletions including -a 17.4 , -a 26.5 , -a 20.5 , a2 -5nt , -a 3.7 , and -a 4.2 , mutations including a2 -Poly A1 , a2 -Poly A2 and a1 cd 59 G [ A point mutation and aaa anti-3.7 gene triplication have been reported in several studies from our country and the frequency of -a 3.7 deletion has been reported to be rather high as in other populations of Mediterranean basin [4,5]. The most common genotypes in Iraq were -a 3.7 /aa, -MED /aa and -a 3.7 /-a 3.7 which were detected in 65.1 % of the study group [6].…”

Section: Discussionsupporting

confidence: 54%

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Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -a 3.7 (63.3 %), -MED (11.7 %), -20.5 (10.7 %), a2 IVS1(-5nt) (3.9 %), and a2 polyA-2 (3.5 %). The most frequent genotypes were -a 3.7 /aa (35.8 %), -a 3.7 /-a 3.7 (18.9 %), -20.5 /aa (11.5 %), and -MED /aa (10.4 %), respectively. There were statistically significant differences in hematological findings between -a 3.7 /-a 3.7 and -MED /aa, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -a 3.7 single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

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Section: Discussionsupporting

confidence: 54%

“…There are four functional a genes, termed as aa/aa, in normal individuals [4]. The clinical signs are caused mostly by the deletion of one (-a/) or both (-/) cis-linked a-globin genes and less frequently by non-deletional mutations (a T a or aa T ) [4,5].…”

Section: Introductionmentioning

confidence: 99%

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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“…Some children with a mean cell volume .79 fL (n = 154) were excluded from the Hb genotyping because they were unlikely to have one of the genetic Hb disorders known to occur in Cambodia (6), whereas for 225 children there was either an insufficient blood sample or errors in the assay. The NIPHL, Cambodia, analyzed 262 samples by using PCR procedures from the ViennaLab Diagnostics GmbH, Vienna, Austria, that covered 21 a-globin and 22 b-globin mutations (20). Genotyping for the remaining participants was carried out by PCR at the Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Thailand.…”

Section: Participants and Methodsmentioning

confidence: 99%

Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children

George¹,

Yiannakis²,

Main³

et al. 2012

SciVee

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In Cambodia, many factors may complicate the detection of iron deficiency. In a cross-sectional survey, we assessed the role of genetic hemoglobin (Hb) disorders, iron deficiency, vitamin A deficiency, infections, and other factors on Hb in young Cambodian children. Data on sociodemographic status, morbidity, and growth were collected from children (n = 3124) aged 6 to 59 mo selected from 3 rural provinces and Phnom Penh municipality. Blood samples were collected (n = 2695) for complete blood count, Hb type (by DNA analysis), ferritin, soluble transferrin receptor (sTfR), retinol-binding protein (RBP), C-reactive protein, and a 1 -acid glycoprotein (AGP). Genetic Hb disorders, anemia, and vitamin A deficiency were more common in rural than in urban provinces (P , 0.001): 60.0 vs. 40.0%, 58.2 vs. 32.7%, and 7.4 vs. 3.1%, respectively. Major determinants of Hb were age group, Hb type, ferritin, sTfR, RBP, AGP .1.0 g/L (P , 0.001), and rural setting (P , 0.05). Age group, Hb type, RBP, elevated AGP, and rural setting also influenced ferritin and sTfR (P , 0.02).Multiple factors affected anemia status, including the following: age groups 6-11.99 mo (OR: 6.1; 95% CI: 4.3, 8.7) and 12-23.99 mo (OR: 2.7; 95% CI: 2.1, 3.6); Hb type, notably Hb EE (OR: 18.5; 95% CI: 8.5, 40.4); low ferritin (OR: 3.2; 95% CI: 2.2, 4.7); elevated AGP (OR: 1.4; 95% CI: 1.2,1.7); rural setting (OR: 2.3; 95% CI: 1.7, 3.1); low RBP (OR: 3.6; 95% CI: 2.2, 5.9); and elevated sTfR (OR: 2.1; 95% CI: 1.7, 2.7). In Cambodia, where a high prevalence of genetic Hb disorders exists, ferritin and sTfR are of limited use for assessing the prevalence of iron deficiency. New low-cost methods for detecting genetic Hb disorders are urgently required.

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“…From different samples, such as blood or amniotic fluid, genomic DNA is extracted, and the mutant/wild parts of genes are amplified through multiplex PCR with biotinylated primers. After the PCR products are hybridized on nitrocellulose membrane with allele-specific probes, mutant and wild-type alleles are detected by enzymatic color reaction [8]. The Alpha-Globin StripAssay® (ViennaLab-Labordiagnostika GmbH, Vienna, Austria) has recently become available and considerably facilitated the α-thal diagnosis in Turkey.…”

Section: Introductionmentioning

confidence: 99%

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

et al. 2010

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Background/Aim: α-Thalassemia (α-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the α-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of α-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the α-globin gene was carried out by an Alpha-Globin StripAssay® which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with α-thal and found that the prevalence of α-thal is 7.5% in this area. In molecular analyses, the α-thal gene mutations α^3.7, α^4.2, --^MED, --^20.5, α^PA-2α, ααα^anti-3.7, and α^PA-1α were detected. Conclusion: Our results showed that the α-thal mutations represent a great heterogeneity and that the -α^3.7 deletion has the highest frequency in Adana.

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Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

Abstract: The Alpha-Globin StripAssay proved to be a fast, easy-to-perform and reliable screening method to identify >90% of alpha-globin mutations in endemic areas worldwide.

Cited by 40 publications

References 25 publications

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

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