Hemoglobinopathies in the North of Morocco: Consanguinity Pilot Study

Laghmich, Achraf; Ismaili, Fatima Zahra Alaoui; Zian, Zeineb; Barakat, Amina; Nourouti, Naima Ghailani; Mechita, Mohcine Bennani

doi:10.1155/2019/6857417

Cited by 7 publications

(5 citation statements)

References 24 publications

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“…In a study conducted in Morocco recruiting the parents of 197 children diagnosed with hemoglobinopathies, it was reported that 50.25% of the sample of parents were related to their partners. 16 This finding is similar to our findings, illustrating the important cultural influence in supporting consanguineous marriages.…”

Section: Discussionsupporting

confidence: 92%

Assessment of Factors Associated with the Effectiveness of Premarital Screening for Hemoglobinopathies in the South of Saudi Arabia

Gosadi

Gohal

Dalak

et al. 2021

IJGM

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Purpose Southern region of Saudi Arabia has one of the highest prevalence of sickle cell disease and thalassemia in the kingdom. This study aims to assess the factors associated with the rejection of premarital clinical counselling in the Jazan region. Methods This is a cross-sectional investigation conducted in the Jazan region of Saudi Arabia. The investigation targeted subjects who performed premarital screening and, with their screened partners, were identified as high-risk couples and proceeded with their marriage. Data were collected via a web-based self-administered questionnaire. A section of the questionnaire targeted those who attended the premarital counselling clinic in the Jazan region and assessed the factors that led to the rejection of premarital counselling advice. Results A total of 413 participants were recruited. The mean age of the respondents was 33 years, and the majority of the respondents were female (62.5%). The majority of the respondents were related to their partners (66.8%) and were carriers of sickle cell disease (67.8%). Among the respondents, only 192 had attended premarital counselling clinics in the Jazan region. More than half of the attendees rejected the premarital counseling advice because they believed that their marriage was their unavoidable destiny. About 30% of the attendees reported that disease complications were not well explained during the counselling. Thirty-five attendees (18.2%) proceeded with the marriage because they thought the risk of transmitting the disease to their children was small and 10 attendees (5.2%) proceeded with their marriage because they believed their children’s lives would not be affected by the disease. Conclusion The findings explain the limited influence of the premarital counselling advice in raising the awareness of the attendees about inherited blood disorders. The findings indicate a strong cultural influence leading to the reduced effectiveness of premarital counselling in the Jazan region.

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Section: Discussionsupporting

confidence: 92%

Assessment of Factors Associated with the Effectiveness of Premarital Screening for Hemoglobinopathies in the South of Saudi Arabia

Gosadi

Gohal

Dalak

et al. 2021

IJGM

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“…A 2016-2018 study of consanguinity in the hemoglobinopathy population found, however, that consanguinity in the parents of hemoglobinopathy patients was much higher (50.25%) than in the normal population. This study also documented that, while high, this is a 14.22% decrease from the previous generation, presumably due to improving genetic information and education (Laghmich et al 2019b).…”

Section: Morocco (Kingdom Of Morocco)supporting

confidence: 61%

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

et al. 2020

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In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries. The agenda focused on newborn screening rationale, techniques, system development, implementation barriers, ongoing research, and collaborations both globally and across Africa. We provide an overview of the workshop and a description of the newborn screening activities in the 11 African countries represented at the workshop, with a focus on sickle cell disease.

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“…This finding is consistent with the previous study which showed that the consanguinity rate in Eastern Morocco region is higher than the national average (29.58% vs. 22.79%) (Mohammed et al, 2019 ; Talbi et al, 2007 ). Thereby, it is not surprising to see a strong occurrence of autosomal recessive diseases such as thalassemia in our population (Habibeddine et al, 2018 ; Jaouad et al, 2009 ; Laghmich et al, 2019 ).…”

Section: Discussionmentioning

confidence: 63%

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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Hemoglobinopathies in the North of Morocco: Consanguinity Pilot Study

Cited by 7 publications

References 24 publications

Assessment of Factors Associated with the Effectiveness of Premarital Screening for Hemoglobinopathies in the South of Saudi Arabia

Assessment of Factors Associated with the Effectiveness of Premarital Screening for Hemoglobinopathies in the South of Saudi Arabia

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

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

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