β‐Thalassemia in Algeria

Labie, Dominique; Bennani, C.; Beldjord, Chérif

doi:10.1111/j.1749-6632.1990.tb24289.x

Cited by 18 publications

(7 citation statements)

References 30 publications

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“…The milder mutant IVS-1-6 (T+C) is the third most common with a frequency of 15.4%. The frequency of this mutation is higher in the eastern part of Sicily ( [19], Tunisia (3%) [20], Lebanon (8%), and Israel (3.5%) [21]. Among the rare mutation that we detected, some are typical of the South Mediterranean, i.e., the IVS-1-2 (T+A) mutation found in Algeria [22], the IVS-1-130 (G-C) mutation present in Egypt [23], and the CD 30 (G+A) mutation in Tunisia [24].…”

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of β‐thalassemia in southeast sicily

et al. 1995

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In this study we have defined the spectrum of the beta-thalassemia mutations, the beta-thalassemia haplotypes, and the genotype-to-phenotype correlations in a large number of patients with different beta-thalassemia conditions. Seventeen different beta-thalassemia mutations were detected which included one chromosome each with Hb Dhonburi and Hb Lepore. Five alleles, namely, codon 39 (C-->T), IVS-I-110 (G-->A), IVS-I-6 (T-->C), IVS-II-745 (C-->G), and IVS-I-1 (G-->A), account for 90% of all beta-thalassemia mutations in 846 thalassemic chromosomes studied. Haplotyping for a large number of subjects showed that the five common mutations are linked to a few haplotypes. The presence of milder mutations, mainly IVS-I-6 (T C), in about 19% of our patients explains some of the clinical variables. Among the 37 patients with thalassemia of intermediate severity, only 6 were homozygous or compound heterozygous for two severe alleles. The type of beta-thalassemia is the main factor responsible for differences in the phenotypic expression of the disease in patients with Hb S-beta-thalassemia; patients with Hb S-beta(+)-thalassemia are less severely affected than those with Hb S-beta(0)-thalassemia. The five most frequent mutations have comparable distributions all over Sicily.

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Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of β‐thalassemia in southeast sicily

et al. 1995

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“…The FSC 6, found in linkage with haplotypes III [− + − + + + −] and IX [− + − + + + +] in the Moroccan population, is the only mutation which, in both homozygous and heterozygous states (the XmnI polymorphism was found to be on the chromosomes carrying the FSC 6 mutation) was associated with the −158 (C→T) polymorphism. This mutation, of North African origin (27), was previously found to be associated with haplotype IX [− + − + + + +] in the Algerian population (30). All the patients studied, who carried the same haplotype IX [− + − + + + +] on both chromosomes with the −158 (C→T) polymorphism of the G γ-globin gene, have a mild form of the disease related to the overproduction of fetal Hb.…”

Section: Xmni G G Polymorphismmentioning

confidence: 97%

Genotypic Correlation Between Six Common β-Thalassemia Mutations and theXmnI Polymorphism in the Moroccan Population

Agouti¹,

Badens

Abouyoub

et al. 2007

Hemoglobin

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beta-Thalassemia (thal) is the most common recessive inherited disorder in Mediterranean populations. It is estimated that the frequency of this disease in the Moroccan population is between 1.5 and 3.0%. Severe forms of homozygous thalassemia cases require expensive and technically demanding curative (bone marrow transplantation) or palliative (chronic transfusion/chelation) therapies. The -158 (C-->T) polymorphism of the (G)gamma-globin gene (XmnI polymorphism) is known to ameliorate the severity of the disease because of it strong association with an increased production of fetal hemoglobin (Hb F). Among the many known mutations in Morocco, six are common [codon 39 (C-->T), frameshift codon (FSC) 8 (-AA), IVS-II-745 (CG), FSC 6 (-A), -29 (A-->G) and IVS-I-1 (G-->A)]. In this study, we have investigated, in 82 Moroccan beta-thalassemic chromosomes, the correlation between the six common mutations and the XmnI polymorphism using the Fisher exact test. The XmnI polymorphism was divided into two categories, (XmnI [+] and XmnI [-]) and the six common Moroccan mutations into two groups (group I with FSC 8 and group II without FSC 8). Correlation was carried out between the XmnI [+] category and the six common mutations individually that showed that 68% of chromosomes in the XmnI [+] category had the FSC 8 (-AA) mutation. The results reported here show that there is a positive correlation between the XmnI polymorphism and FSC 8 mutation in linkage with haplotype IV [- + - + + - +] (p <10(-5)). In conclusion, molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological Hb F switching by hydroxyurea (HU). In the Moroccan population, a good response to HU treatment should be suspected in cases with the -158 (C-->T) polymorphism in linkage with haplotype IV and internal beta-globin gene framework 3.

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“…The FSC6(−A) reaches a high frequency in North African countries. It was the third most common variant in Algeria (17.9%–12.9%) and Tunisia (7.02%) and it was the fifth most common variant in Morocco (Agouti, Badens, et al, 2008 ; Chouk et al, 2004 ; Labie et al, 1990 ). It is also frequent in the Portuguese and Bulgarian population (8% and 4.9%, respectively) (Faustino et al, 1999 ; Petkov & Efremov, 2009 ).…”

Section: Discussionmentioning

confidence: 99%

“…IVS‐I‐1(G > A), IVS‐II‐1(G > A), and −56(G > C) were the rarest variants identified in this study. IVS‐I‐1(G > A) was found among the five most common variants in Maghreb Countries (Agouti et al, 2007 ; Labie et al, 1990 ; Lemsaddek et al, 2003 ). The frequency of this variant was higher in Algeria (10%–14.5%), followed by Morocco (5%–13.3%) and finally, Tunisia (4%) (Abdaoui et al, 2019 ; Agouti, Badens, et al, 2008 ; Chouk et al, 2004 ; Fattoum et al, 2004 ; Labie et al, 1990 ; Lemsaddek et al, 2003 ).…”

Section: Discussionmentioning

confidence: 99%

“…IVS‐I‐1(G > A) was found among the five most common variants in Maghreb Countries (Agouti et al, 2007 ; Labie et al, 1990 ; Lemsaddek et al, 2003 ). The frequency of this variant was higher in Algeria (10%–14.5%), followed by Morocco (5%–13.3%) and finally, Tunisia (4%) (Abdaoui et al, 2019 ; Agouti, Badens, et al, 2008 ; Chouk et al, 2004 ; Fattoum et al, 2004 ; Labie et al, 1990 ; Lemsaddek et al, 2003 ). Moreover, this variant was also described as the most frequent variant in some European countries such as Czech Republic (27%), Hungary and Middle East countries (Divoka et al, 2016 ; Ghoti et al, 2017 ; Ringelhann et al, 1993 ), and it has been suggested that the variant was originated from Eastern Europe (Makhoul et al, 2005 ).…”

Section: Discussionmentioning

confidence: 99%

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Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

Belmokhtar

Lhousni

Errahhali

et al. 2022

Molec Gen & Gen Med

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Background β‐thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β‐globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the β‐globin gene ( HBB ), and each ethnic group has its own mutation spectrum. Hereby, we present, for the first time, the molecular profile of β‐thalassemia in the Eastern region of Morocco. Methods This study concerns 39 cases from 33 families who were enrolled in the BRO Biobank. Nineteen were diagnosed with β‐thalassemia major and 20 with β‐thalassemia minor. To detect mutations of the β‐globin gene, we have used RFLP‐PCR and Sanger sequencing. Results Nine known β‐thalassemia variants have been identified. Among these, we reported, for the first time in the Moroccan population, the Czechoslovakian variant C38/39(‐C) at homozygous state. The C39(C > T) was the most frequent variant (72.54%), followed by FSC5(‐CT) (5.88%), FSC6(−A), IVS‐1‐110(G > A), −29(A > G), C38/39(‐C) (3.92% each), and finally by IVS‐I‐1(G > A), IVS‐II‐1(G > A), and −56(G > C) (1.96%). Of particular interest this mutational spectrum of β‐thalassemia is very different from that found in previous studies in Morocco or in other North African countries. Conclusion This study is the first contribution to the description of the molecular profile of β‐thalassemia in the Eastern region of Morocco. It shows the high molecular heterogeneity of β‐thalassemia in our country. Therefore, these results can be valuable for the implementation of carrier screening, genetic counseling, and prenatal diagnosis programs.

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β‐Thalassemia in Algeria

Cited by 18 publications

References 30 publications

Genetic heterogeneity of β‐thalassemia in southeast sicily

Genetic heterogeneity of β‐thalassemia in southeast sicily

Genotypic Correlation Between Six Common β-Thalassemia Mutations and theXmnI Polymorphism in the Moroccan Population

Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

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