Hb Bart's Levels in Cord Blood and α-Thalassemia Mutations in Cyprus

Kyriacou, Kyriacos; Kyrri, A.; Kalogirou, Eleni Ι.; Vasiliades, Ph.; Angastiniotis, M.; Ioannou, Panayiotis A.; Kleanthous, Marina

doi:10.3109/03630260008997525

Cited by 31 publications

(20 citation statements)

References 35 publications

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“…An alternative method to measure Hb Bart's levels is HPLC analysis or colorimetry after elution [2,5].…”

Section: Discussionmentioning

confidence: 99%

“…No data on a normal control group from Hormozgan were available; therefore, normal hematological CBS values were adapted from the literature [2]. For each genotype the mean values and standard deviations of the Hb, MCV, MCH, and percentage of Hb Bart's …”

Section: Methodsmentioning

confidence: 99%

“…Similar to HbH levels, the level of Hb Bart's has been shown to correlate with the a-thalassemia genotype. However, the Hb Bart's levels in the cord blood is less clearly associated with the type of a-globin gene defect [2,5].…”

Section: Introductionmentioning

confidence: 99%

“…Depending on the level of reduction in a-globin chain synthesis, an excess of gamma and beta-globin chains will produce Hb Bart's (g4) and HbH (b4) in fetus and adult, respectively. Hb Bart's in the cord blood is often used as a marker to identify the presence of a-thalassemia in newborns [2][3][4]. Similar to HbH levels, the level of Hb Bart's has been shown to correlate with the a-thalassemia genotype.…”

Section: Introductionmentioning

confidence: 99%

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Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

et al. 2003

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We describe the molecular spectrum of a-thalassemia mutations in a population sample of newborns in the South-Iranian province of Hormozgan. Out of 660 randomly collected blood samples 218 (33%) had visibly elevated Hb Bart's. DNA was extracted from 78 samples out of this selection (n = 156), of which 114 alleles were found to carry an a-thalassemia defect. Besides the common -a 3.7 (79.1%), -a 4.2 (1.7%), and a -5nt a alleles (4.3%), three novel nondeletional a-thalassemia mutations were found; the a 2 cd19 (-G) frameshift mutation (12.2%), the a 1 IVS1-148(A?G) (0.9%) affecting the splice acceptor site consensus sequence and the cd14 (TGG?TAG) (0.9%), which creates a premature stop codon in the first exon of the a 1 -gene. A fourth mutation in the a 1 -gene, the IVS1-38 (C?T) (0.9%) of undetermined effect, was found in an individual heterozygous for the a 2 cd19(-G) mutation. Am.

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“…An alternative method to measure Hb Bart's levels is HPLC analysis or colorimetry after elution [2,5].…”

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

et al. 2003

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“…Then, we tested for the nondeletional defects: the α TSaudi , α NcoI and α Icaria . These were tested by PCR-RFLP procedure (Traeger-Synodinos et al 1993;Jassim et al 1999), while α HphI was tested by amplification refractory mutation system (ARMS) (Kyriacou et al 2000).…”

Section: α-Globin Genes Cluster Analysismentioning

confidence: 99%

α-Thalassaemia in Tunisia: some epidemiological and molecular data

Siala

Ouali

Messaoud

et al. 2008

J Genet

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Unlike the other haemoglobinopathies, few researches have been published concerning alpha-thalassaemia in Tunisia. The aim of the present work is to acquire further data concerning alpha-thalassaemia prevalence and molecular defects spectrum in Tunisia, by collecting and studying several kinds of samples carrying alpha-thalassaemia. The first survey conducted on 529 cord blood samples using cellulose acetate electrophoresis, have displayed the prevalence of 7.38% Hb Bart's carriers at birth. Molecular analyses were conducted by PCR and DNA sequencing on 20 families' cases from the above survey carrying the Hb Bart's at birth and on 10 Hb H diseased patients. The results showed six alpha-globin gene molecular defects and were responsible for alpha-thalassaemia: -alpha(3.7), - -(MedI), alpha(TSaudi), alpha(2)(cd23GAG->Stop), Hb Greone Hart: alpha(1)(119CCT->TCT) corresponding to 11 genotypes out of which two are responsible for Hb H disease (- -(Med)/-alpha(3.7)) and (alpha(TSaudi)alpha/alpha(TSaudi)alpha) and a newly described polymorphism: alpha+6C->G. The geographical repartition of alpha-thal carriers showed that the -alpha3.7 deletion is distributed all over the country, respectively the alpha(HphI) and alpha(TSaudi) seem to be more frequent in the central region of the northeast region. The haematological and clinical data showed a moderate phenotype with a late age of diagnosis for Hb H disease. This work had permitted, in addition to an overview on alpha-thalassaemia in the country, the optimization of protocols for alpha-thalassaemia detection in our lab, allowing further investigations concerning phenotype-genotype correlation in sickle cell disease or beta-thalassaemia.

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The Cypriot and Iranian National Mutation Frequency Databases

et al. 2006

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The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-touse query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.

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Hb Bart's Levels in Cord Blood and α-Thalassemia Mutations in Cyprus

Cited by 31 publications

References 35 publications

Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

α-Thalassaemia in Tunisia: some epidemiological and molecular data

The Cypriot and Iranian National Mutation Frequency Databases

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