Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.

Background: Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country.

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the c.1331+1G>A Variant, and Implications for Genetic Diagnosis.

Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G>A variant which is very frequent in North Africa.

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait characterized by short stature, shortened limbs and malformations of the hands and feet. It is caused by variants in the growth differentiation factor 5 (GDF5) or, in rare cases, its receptor, the bone morphogenetic protein receptor-1B (BMPR1B). Here, we report a novel homozygous BMPR1B variant causing AMD Grebe type in a consanguineous Moroccan family with two affected sibs from BRO Biobank.

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

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.

Patients' Knowledge and Attitude Toward Biobanks in Eastern Morocco.

To integrate biobanks into the Moroccan health system and to promote biobanks-based research projects, it is necessary to explore the knowledge of patients, their attitudes toward biobanks, and the reasons that motivate them to participate in biobanks. Face-to-face interviews were conducted with patients, and data were analyzed using One thousand one hundred thirty-three questionnaires were completed. The mean age of patients was 47.