Molecular heterogeneity of ß-thalassemia variants in the Eastern region of Morocco.

BACKGROUND: ß-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 ß-globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the ß-globin gene (HBB), and each ethnic group has its own mutation spectrum. Hereby, we present, for the first time, the molecular profile of ß-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 ß-thalassemia major and 20 with ß-thalassemia minor. To detect mutations of the ß-globin gene, we have used RFLP-PCR and Sanger sequencing. RESULTS: Nine known ß-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 ß-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 ß-thalassemia in the Eastern region of Morocco. It shows the high molecular heterogeneity of ß-thalassemia in our country. Therefore, these results can be valuable for the implementation of carrier screening, genetic counseling, and prenatal diagnosis programs.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges.

BACKGROUND: Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors' personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. METHODS: Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. RESULTS: Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. CONCLUSIONS: The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research.

Prevalence of hepatitis B and C in blood transfusion center, Oujda Morocco (2013-2015).

Viral hepatitis is a serious public health problem. Its epidemiology is not precisely known in Morocco. Our objective was to assess the prevalence of HBV and HCV in a particular population of "blood donors" at the Regional Blood Transfusion Centre in Oujda. A retrospective study was conducted from May 1, 2013 to May 31, 2015. Thirty-one thousand nine hundred and fifty-two blood donors were tested. Antigen detection was made according to ELISA technique (MonolisaTMHBs Ag ULTRA). HCV research was performed by ELISA using the kit « Monolisa HCV Ag-Ab ULTRA ¼. 177 blood donors included, they are divided into 155 male (87.6%) and 22 female (12.4%) subjects with a ratio of 7. The average age was 37.64 ± 12 years. Six cases were positive for HCV with an overall prevalence of 0.02%. The population study by sex shows a prevalence of 0.004% for 23177 male sera and 0.057% for 8775 female sera. Six donors were HCV positive, of which 05 were female (83.33%) and one was male (16.66%). The average age was 43 ± 14 years. Co-infection with HCV HBV-HCV and HCV-Syphilis and HCV-HIV are absent. Co-infection with HBV and HIV was found in one case. HBV-syphilis co-infection was found in 04 cases. Chronic viral hepatitis is a real global health problem. Its prevalence is currently estimated at 0.55% for HBV and 0.02% for HCV, reclassifying Morocco as a low endemic area. The prevention remains the most effective method to successfully control HBV and HCV infection.