Two new β+‐thalassemia mutation [β ‐56 (G → C); HBBc. −106 G → C] and [β −83 (G → A); HBBc. −133 G → A] described among the Tunisian population

Douzi, Kais; Moumni, Imen; Zorai, Amine; Mustapha, Maha Ben; Mansour, Ikbel Mosbahi Ben; Chaouachi, Dorra; Alsuwaidan, Salem

doi:10.1002/ajhb.22695

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…She was diagnosed with β‐thalassemia intermedia and remained asymptomatic without the need of regular transfusion until the age of 18 years old (Agouti, Bennani, et al, 2008 ). It was also described at homozygous state in a Tunisian patient who had only a mild anemia and never required transfusion (Douzi et al, 2015 ). In the present study, −56(G > C) was identified in a patient in compound heterozygous with −29(A > G) who had never required transfusion.…”

Section: Discussionmentioning

confidence: 94%

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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Section: Discussionmentioning

confidence: 94%

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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β‐Thalassemia pathogenic variants in a cohort of children from the East African coast

Macharia

Mochamah

Uyoga

et al. 2020

Molec Gen & Gen Med

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Backgroundβ‐Thalassemia is rare in sub‐Saharan Africa. Previous studies have suggested that it is limited to specific parts of West Africa. Based on hemoglobin A2 (HbA2) concentrations measured by HPLC, we recently speculated that β‐thalassemia might also be present on the East African coast of Kenya. Here, we follow this up using molecular methods.MethodsWe used raised hemoglobin A2 (HbA2) values (> 4.0% of total Hb) to target all HbAA members of a cohort study in Kilifi, Kenya, for HBB sequencing for β‐thalassemia (n = 99) together with a sample of HbAA subjects with lower HbA2 levels. Because HbA2 values are artifactually raised in subjects carrying sickle hemoglobin (HbS) we sequenced all participants with an HPLC pattern showing HbS without HbA (n = 116) and a sample with a pattern showing both HbA and HbS.ResultsOverall, we identified 83 carriers of four separate β‐thalassemia pathogenic variants: three β0‐thalassemia [CD22 (GAA→TAA), initiation codon (ATG→ACG), and IVS1‐3ʹ end del 25bp] and one β+‐thalassemia pathogenic variants (IVS‐I‐110 (G→A)). We estimated the minimum allele frequency of all variants combined within the study population at 0.3%.Conclusionsβ‐Thalassemia is present in Kilifi, Kenya, an observation that has implications for the diagnosis and clinical care of children from the East Africa region.

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Co-inheritance ofHBB:c.−106G > C, a rare single nucleotide variation at position −56 relative to transcription initiation site, with other known mutations in the globin clusters

et al. 2017

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Two new β⁺‐thalassemia mutation [β ‐56 (G → C); HBBc. −106 G → C] and [β −83 (G → A); HBBc. −133 G → A] described among the Tunisian population

Abstract: The two newly described mutations lead to the β(+) -thalassemia among Tunisian patients. The haplotype analysis and framework assignment have helped to identify the chromosomal background associated with these mutations, and determine their origin and spread.

Cited by 3 publications

References 25 publications

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

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

β‐Thalassemia pathogenic variants in a cohort of children from the East African coast

Co-inheritance ofHBB:c.−106G > C, a rare single nucleotide variation at position −56 relative to transcription initiation site, with other known mutations in the globin clusters

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