The ethnic distribution of sickle cell disease in Sudan

Sickle cell disease (SCD) is one of the most common inherited disorders of haemoglobin in Africa and it is expected that sickle cell trait varies in frequency in different areas in Sudan. An extensive literature search was carried out accessing the US National Library of Medicine, the WHO Eastern Mediterranean Region  resources, the Catalogue for Transmission Genetics in Arabs and papers and documents published in Sudan  that included data on the prevalence of sickle cell anaemia and trait. Rates of SCA and trait varied in different areas in Sudan with the highest rates reported from Western and Eastern Sudan where one in every 123 children born in Messeryia tribe in Western Sudan is at risk of having SCD. High consanguinity rates and malaria endemicity are strong related factors with sickle cell gene in Sudan. This review will present what is known about the rates of sickle cell gene in different ethnic groups in Sudan

THE CHANGING PROFILE OF CONSANGUINITY RATES IN BAHRAIN, 1990-2009

Consanguineous marriage is traditional and respected in most communities of North Africa, the Middle East and West Asia, including Bahrain, with intra-familial unions accounting for 20-50+% of all marriages. Significant secular changes in consanguinity rates have been reported in recent decades in different populations. Among parents of 14,237 newborns in Bahrain in 2008-2009, the total consanguinity and first cousin marriage rates over a period of four months in 2008 were 10.9% and 6.9% respectively, while during all of 2009 the rates were 11.4% and 6.8% respectively. The study confirms that over a ten-year period first cousin marriage rates in Bahrain have declined from 24% to nearly 7%. Although advice against cousin marriages was not attempted at any stage in the comprehensive community genetics programmes in Bahrain, increasing the literacy of the public and of the health care providers on prevention strategies for genetic diseases could have contributed to this decline in consanguinity rate in Bahrai

Clinical and inheritance profiles of Kallmann syndrome in Jordan

BACKGROUND: Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. SUBJECTS: Over a period of five years (1999–2004), the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. RESULTS: The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. CONCLUSIONS: (1) the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2) Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3) Children presenting with cryptorchidism and microphallus in our population should be investigated for KS

E-learning for research capacity strengthening in sexual and reproductive health: the experience of the Geneva Foundation for Medical Education and Research and the Department of Reproductive Health and Research, World Health Organization

Abstract: Technological advancement has resulted in the increasing use of e-learning and online education, initially in high-income countries and increasingly in low- and middle-income countries. Background: In 2010, the Geneva Foundation for Medical Education and Research, in collaboration with the World Health Organization and partner institutions, developed an online postgraduate course “From Research to Practice: Training Course in Sexual and Reproductive Health Research”. This course takes advantage of the advancing Internet technology to provide training opportunities to health professionals mostly from low- and middle-income countries whose access to quality education is constrained by time, financial resources, or both. Case presentation: To assess the outcomes of the course, an evaluation was conducted by sending a self-administered questionnaire to graduates of the 2010–2012 programme. The objectives were to determine if the graduates had applied the knowledge gained from the course to their work and whether they had implemented their research project developed during the course. The evaluation also appraised the number of graduates who participated in the design or implementation of a new research project since the course concluded and whether the course had contributed to advancement in their careers. A total of 175 of 219 course graduates answered the questionnaire. The evaluation revealed that the majority of respondents (98%) had utilized the knowledge acquired, with nearly half of them (47%) having published a scientific paper as author or co-author. About a third of respondents (39%) had implemented their course research project and about three quarters of them (74%) have been involved in the design or implementation of a research project after completing the course. Over three quarters (81%) of respondents opined that the course had contributed to their career advancement and almost half of them (46%) had a career promotion as a direct or indirect benefit of the course. Conclusion: We surmise that the course positively impacted the participants’ knowledge and understanding of sexual and reproductive health, which they applied in their professional work, as well as strengthened their research capacity. Success factors for the e-learning programme include tailor-made content to meet participants’ needs, flexibility of access, and ongoing engagement/personal interactivity with course coaches

Consanguinity and reproductive health among Arabs

Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Background: Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. Methods: A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C®T), Chatham (1003 G®A), A- (202 G®A) and Aures (143 T®C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C®T) silent mutation. Results: G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Conclusions: Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to othe