A New δ Chain Variant, Hb A2-Tunis [δ46(CD5)Gly → Glu;HBD: c.140G&gt;A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys;HBB: c.19G&gt;A] β0-Thalassemia [IVS-I-1 (β143, G&gt;A);HBB: c.92+1G&gt;A]

Moumni, Imen; Zorai, Amine; Mahjoub, S.; Mosbahi, Ikbel; Chaouechi, D; Benromdhane, Neila; Alsuwaidan, Salem

doi:10.3109/03630269.2013.872123

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…DNA sequencing of the δ‐globin gene exons showed the presence of a heterozygous mutation GGG → GAG at codon 46 in exon 2 which led to a Gly → Glu substitution. The corresponding Hb variant was named Hb A 2 ‐Tunis . Apparently, the structural modification does not affect the stability of the variant as the percentages of the normal and mutated Hb A 2 are almost identical.…”

Section: Resultsmentioning

confidence: 99%

Rare hemoglobin variants in Tunisian population

Zorai

Moumni

Mosbahi

et al. 2014

Int J Lab Hematology

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S U M M A RYDuring the last 30 years, many studies concerning hemoglobinopathies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the b-globin gene, and less are affecting the a-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF), and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tunisians. HbA2-Tunis [d46(CD5), Gly ? Glu, GGG ? GAG] is the newly described d-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the a1-, a2-, d-, c-, and b-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants.

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Section: Resultsmentioning

confidence: 99%

Rare hemoglobin variants in Tunisian population

Zorai

Moumni

Mosbahi

et al. 2014

Int J Lab Hematology

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Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand

Prajantasen

Prayalaw

Panyasai

et al. 2021

Genetic Testing and Molecular Biomarkers

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Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations

Vučak

Turudić

Milošević

et al. 2018

Journal of Pediatric Hematology/Oncology

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An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and oncology of the University Hospital Centre, Zagreb, Croatia. HBB gene mutations were determined using a gene-specific Q5 High-Fidelity PCR analysis with direct DNA sequencing of amplified transcripts. Mahidol score index used for classification of thalassemia severity was found to be low for all the patients enrolled in the study, indicating a mild β-thalassemia phenotype with no signs of disease progression. Most of the patients have already described gene mutations: IVS-II-666 C>T (HBB:c.316-185C>T) and IVS-II-16 G>C (HBB:c.315+16G>C). Each of the aforementioned mutations was found in (11/14; 78,57%) and (10/14; 71,43%) of our patients, respectively. Recently published HBB:c.9T>C mutation was found in 8 of 14 (57,14%) in our study group. IVSII-74 T>G (HBB:c.315+74T>G) is a worldwide mutation found in 6 of 14 (42.86%) of our patients. All these mutations occur among Croatian children with no obvious Indian/Near Eastern/Iranian ancestry. We also identified 7 de novo mutations (c.316-135het_dupT, c.316-133A>G, c.93-54G>A, c.316-68_316-67het_insCGG, c.316-342delA, c.316-312delT, c.316-209delT) of mild severity phenotype according to Mahidol classification score index. We did not find children or adults with thalassemia major severity phenotype.

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A New δ Chain Variant, Hb A₂-Tunis [δ46(CD5)Gly → Glu;HBD: c.140G>A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys;HBB: c.19G>A] β⁰-Thalassemia [IVS-I-1 (β143, G>A);HBB: c.92+1G>A]

Cited by 3 publications

References 9 publications

Rare hemoglobin variants in Tunisian population

Rare hemoglobin variants in Tunisian population

Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand

Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations

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