Pre-marital examination as a method of prevention from blood genetic disorders. Community views

The Saudi Royal Cabinet issued the Saudi Royal Decree No. 3 dated 11-7-1424, establishing the pre-marital examination as a health preventive measure for all Saudis, and requesting the 2 prospective partners [male and female] to carry out a pre-marital examination and present a certificate of pre-marital examination before the wedding. However, the prospective husband and wife are not obliged to abide by the laboratory results if they so wish. This program started officially on the 1st of Muharram, 1425. As a consequence, the community perception and views on the pre-marital examination program as a preventive measure become crucial. Therefore, this study was organized and conducted to reveal the perception of the community regarding the program, through a purpose-made questionnaire that was distributed during symposia and awareness lectures held throughout the Kingdom [Riyadh, Jeddah, Dammam, Al-Khobar, Al-Ahsa, Al-Qassim, and Madinah]. The questionnaire covers the opinions of the participants in various aspects related to genetic diseases including nature of diseases, mode of transmission, affecting factors, complications, management, and prevention. In addition, the questionnaire also covers opinions regarding the pre-marital examination as a preventive measure of blood genetic diseases, and its contribution to the control of these diseases. The questionnaire also covers methods in obtaining information, whether from studies, lectures, information media, and awareness lectures. The results revealed that the majority of the participants [94.3%] were convinced that the pre-marital examination is an effective mean of prevention of blood genetic diseases. The majority [86.9%] of the participants were also convinced that the pre-marital examination should be mandatory. These are indications that the community is aware of the pre-marital examination, and the effectiveness of the awareness program is enriching the knowledge of the citizens

natural history and the national pre-marital screening program in Saudi Arabia

The genetic disorders are chronic in nature and, therefore, require continuous support and health care. Consequently, the genetic diseases cause formidable economic and psychosocial burdens on the family with negative reflection on the community at large. The genetic diseases are a heterogeneous group that result in varieties of chronic health ailment as a result of defects in the genetic material. The congenital malformations and some genetic defects may result from exposure to radiation, pharmaceutical drugs, the exposure of the mother during pregnancy to certain infectious diseases, such as rubella, toxoplasma or viruses. It may also result as a side effect of chronic diseases, including diabetes, hypertension or varieties of environmental factors, or both. The other group of genetic diseases are transmitted from parents to the offspring through a specific pattern of inheritance exemplified by recessive genetic disorders. This group includes the sickle cell gene, the thalassemias, the hemophilias, inborn errors of metabolism and red cell enzymopathies. The main etiological factors of genetic diseases and congenital malformations are 1 Genetic defects which are transmitted to offspring through carriers of affected parents. 2 Mutations in the genetic materials due to spontaneous mutations, exposure of the mother during pregnancy to infectious diseases, such as rubella and toxoplasma, receiving certain teratogenic drugs during pregnancy, exposure of the mother to ionizing radiation during pregnancy such as x-ray and chronic diseases of the mother, such as diabetes mellitus. 3 Others such as difficult labor or injury to the baby, during or after labor. This paper reviews the natural history of common blood genetic disorders and the means of prevention and control, focusing on pre-marital screening as a means of prevention

prevalence of obesity and overweight in 1 - 18 - year - old Saudi children.

The aim of this study was to review the prevalence of overweight and obesity in Saudi children with ages ranging up to 18 years. Subjects and The study was a cross-sectional national epidemiological household survey, and the study group included 12071 children [boys 6281; girls 6420], with ages ranging from 1-18 years. Their height and weight were measured and body mass index [BMI] was calculated. The study group was classified as obese or overweight, using age- and sex-specific cut-off points for BMI for determining overweight and obesity in children. The overall prevalence of overweight was 10.7% and 12.7% in the boys and girls, respectively, and obesity was 6.0% and 6.74% in the two groups, respectively. The children were grouped according to the province to which they belonged, and prevalence of obesity and overweight were calculated for each province. The highest frequency was in the Eastern Province, while the lowest was in the Southern Province. The children were further grouped into 1-6, 6-12 and 12-18-year-olds and prevalence of obesity and overweight was calculated. In addition, at yearly intervals, the prevalence of obesity and overweight was calculated. Among the boys and girls, the maximum prevalence of obesity was in the 2-3 year-olds. A decrease in prevalence was found in both males and females up to the age group of 8-13 years, and then the prevalence increased again up to the 18 years age. This epidemiological household survey shows the overweight and obesity trends in Saudi children based on the international sex-specific cut-off points for BMI. It also shows a variable prevalence in different age groups until after 13 years, when the prevalence rate increases

Hematological risk factors for cononary heart disease

Coronary heart disease [CHD] is a leading cause of morbidity and mortality in the developed and developing countries. Several underlying genetic and environmental factors have been implicated in its etiology. Some of the hematological risk factors implicated in the development of coronary heart disease include antithrombin III deficiency, protein C and protein S deficiency, factor V Leiden mutation, prothrombin gene [20210A] mutation hyperhomocystinaemia, elevated factor VIII levels, plasminogen activator inhibitor type 1 and dysfibrinogenaemia. In general, these factors result in thrombosis, thus having a negative effect on the heart and blood vessels. This paper presents an overview of some of the hematological risk factors involved in the development of CHD

Association of hypertension and non-insulin-dependent diabetes mellitus in the Saudi Population

Saudi Arabia has a high prevalence of diabetes mellitus [DM]. Several studies have shown that hypertension [HT] occurs frequently in obese individuals. This study was conducted to determine the prevalence of HT in Saudi diabetic patients. Subjects and A total of 13,519 nondiabetic and 1286 diabetic adult subjects diagnosed during the National Program for the Study of DM, in which household screening was carried out, were included in the study. The diagnosis of DM and HT was based on the criteria of the World Health Organization. From the total group, the prevalence of HT in nondiabetic males and females was 4.48% and 2.8%, respectively, while it was 11.44% and 15.98% in the diabetic males and females, respectively. The subjects were classified according to the province to which they belonged, and the prevalence of HT was calculated in the diabetic and nondiabetic group. In the Central, Eastern and Western Provinces, female diabetics had a significantly higher HT prevalence compared to male diabetics, however, in the Southern and Northern Provinces, the prevalence rate was almost the same. In all provinces the increase in prevalence of HT in diabetics was significantly higher in the females compared to the males. Since HT prevalence increases significantly in diabetics, and this association leads to several cardiovascular complications, it is necessary to adopt measures for the control of DM and HT in the Saudi population

Prevalence of plasma lipid abnormalities in Saudi children

Lipid levels in children vary in different populations. Due to a close association between high lipid levels and development of atherosclerosis, considerable interest has been directed to investigating lipid levels in children. Materials and We conducted this study on 2914 children with ages ranging from 1 year to <15 years, randomly selected during a national household screening program. Fasting blood samples were used for estimation of triglyceride and cholesterol levels. The overall range for cholesterol was 2.0-5.7 mmol/L and for triglyceride the overall range was 0.1-1.7 mmol/L. The children were separated into 14 groups depending on age, and the cholesterol and triglyceride levels were calculated in each age group. Using published guidelines for estimating "borderline" and "high risk" for coronary artery disease from cholesterol and triglyceride levels, the prevalence of borderline and high-risk groups was calculated. 7.72% of the children fell in the borderline risk group and 1.55% in the high-risk group using cholesterol values, while using triglyceride values, 1.4% and 0.55% fell in the borderline and high-risk groups, respectively. The prevalence of abnormality varied in the different age groups. The paper discusses the need for a lipid awareness program in Saudi children in an attempt to decrease the complications associated with dyslipidemias during adulthood

Lipids and related parameters inSaudi type ll diabetes mellitus patients

Non-insulin dependent diabetes mellitus [type II DM] is frequently associated with abnormal levels of lipids, particularly in patients with poor diabetic control. This study was designed to investigate the influence of type II DM on levels of plasma lipids and other related parameters in Saudi patients. Saudi Arabia has a high prevalence of diabetes mellitus in the adult population. Since the Saudi population presents a unique group with different dietary habits, lifestyle and genetic make-up, we investigated the lipids, lipoprotein and apolipoprotein pattern in Saudi type II DM patients. Materials and This study was conducted on 2835 diabetic patients [1361 males, 1474 females] and 200 age-matched healthy adults from the same areas with no history of diabetes mellitus. Data collected included height, weight, body mass index [BMI], blood pressure and other relevant parameters. Lipids, lipoproteins and apolipoproteins were estimated, and correlation studies were carried out between these parameters. Lipids, lipoproteins and apolipoproteins were also correlated with the fasting blood glucose. Our results showed significant elevation in cholesterol and triglyceride, apo A and apo B levels in the diabetic males and females compared to the controls. Approximately 37% of the total DM patients fell in the borderline risk group, while 28.4% fell in the high-risk group for development of cardiovascular disease. Lipoproteins did not differ significantly. Cholesterol, triglyceride, VLDL, LDL and Hb A1c correlated positively with glucose [P<0.05], while triglyceride, VLDL, HDL, LDL, apo A and apo B showed significant correlation with cholesterol, where all parameters increased with cholesterol except HDL, which decreased as cholesterol increased. The findings point toward high prevalence of dyslipidemia in type II DM Saudi patients

Diabetes mellitus as a health problem in Saudi Arabia

A total of 25 337 Saudis [11 713 males [46.2%] and 13 624 females [53.8%]] were screened for diabetes mellitus and impaired glucose tolerance using WHO criteria for diagnosis. The prevalence of insulin-dependent diabetes mellitus, non-insulin-dependent diabetes mellitus and impaired glucose tolerance in the total Saudi male population was 0.23%, 5.63% and 0.50% respectively, and in the total Saudi female population was 0.30%, 4.53% and 0.72% respectively. Differences were observed in the prevalence of diabetes mellitus and impaired glucose tolerance between the provinces. Non-insulin-dependent diabetes mellitus increased to 28.82% and 24.92% in males and females respectively over the age of 60 years, while impaired glucose tolerance increased to 1.60% and 3.56%

heterogenicity of the molecular basis of B- thalassemia among Arabs

The molecular basis of beta-thalassaemias [beta-thal] were investigated in Arab populations from different countries. A total of 272 blood samples [5-10 ml] were collected from unrelated beta-thal patients attending the Ministry of Health hospitals in Riyadh, Saudi Arabia, and were grouped according to their nationality into eight groups [ie. Saudis, Jordanians, Egyptians, Syrians, Lebanese, Yemenis, Sudanese and Palestinians]. DNA was prepared from the buffy coat and stored frozen at 70°C until required for analysis. Using Amplification Refractory Mutation System [ARMS], Denaturing Gradient Gel Electrophoresis [DGGE] and dot blot analysis, the following mutations were investigated: IVS-1-1, IVS-1-6, CD 15, CD 41/42, CD 8/9, CD 39, IVS 1-5, IVS-II-1, IVS-I-110, Cap+1, IVS-1-3' end [25 bp deletion], CD 6, IVS-II-745, CD 16, IVS-II-654, IVS-I-1 [G-A], CD 17, CD 30, -88 and -28. The results revealed a significant heterogeneity in the molecular basis of beta-thal in Arabs from different countries where each group has a major set of 6-8 mutations accounting for majority [-80%] of the beta-thal. Interestingly IVS-I-110 and IVS-II-1 were found in all Arabs, but at a significantly variable frequency, where they were more frequent in the countries around the Mediterranean and gradually decreased to the East. On the other hand, IVS-1-5, an Asian mutation occurred at a high prevalence in the UAE populations and decreased to the west. Saudi Arabia showed an overlap of both Mediterranean and Asian mutations. The beta-thal gene mutations exhibit considerable heterogeneity in the different Arab populations. These represent either the trend of population movement or new mutations that may have occurred independently. As in the other populations of the world, 5-7 common mutations are characteristic of each country

Epidemiology of G-6-PD deficiency in Saudi Arabia

Glucose-6-phosphate dehydrogenase deficiency is the most frequently encountered red cell enzymopathy affecting the pentose phosphate pathway of glucose metabolism. The aim of this study is to conduct a comprehensive epidemiological survey of G-6-PD deficiency in Saudi Arabia Twenty-seven thousand, four hundred and seven Saudis living in 31 different areas were included in the study. The activity of G-6-PD was estimated in red cell hemolysates using commercially available kits from Boehringer Mannheim GmbH and the units of G-6-PD activity were calculated as mU/109 erythrocytes. Overall frequency of G-6-PD deficiency was 0.0905 and 0.041 in Saudi males and females, respectively. When separated on the basis of the provinces, the highest frequency was in the eastern province in both males and females and the lowest was in the northern province. Further separation of the data was carried out and significant differences were encountered in the different areas within each province. In each area the deficient females encountered were significantly more that the expected number calculated using Hardy Weinburg equilibrium. G-6-PD deficiency frequently occurs in several areas of Saudi Arabia. In general, this corresponds to malaria endemicity in the past. The Hardy Weinburg equilibrium is disturbed either due to the high rate of consanguinity or to the inactivation of the normal X-chromosome [Lyons phenomenon] in the heterozygote females. Awareness programs about this frequent enzymopathy are needed in Saudi Arabia to prevent the consequences of the deficiency state

sickle cell gene as a multifaceted problem in Saudi Arabia

This study was conducted in 34 areas of Saudi Arabia to determine the prevalence of individuals homozygous and heterozygous to sickle cell hemoglobin and to determine the Hb S gene frequency. Over a 10 year period 30,055 samples from Saudi individuals living in 34 different areas of Saudi Arabia were analysed by alkaline and acid electrophoresis using blood samples drawn in EDTA tubes. The overall prevalence of Hb S homozygotes and heterozygotes was 1.058% and 7.356%, respectively and the Hb S gene frequency was 0.0474. When separated on the basis of the province, the highest gene frequency was in the eastern province while the lowest was in the central and northern provinces where in several areas no case of Hb SS or Hb AS were identified. Within each province the different areas showed a remarkable heterogeneity in the prevalence of the Hb S gene. The expected number of Hb S homozygotes were calculated by applying Hardy Weinburg equilibrium and found to be significantly lower than the actual number identified during the study. Sickle cell gene occurs in several areas of Saudi Arabia and the gene frequency correlates with history of malaria endemicity. The Hardy Weinburg equilibrium is limited in providing an estimate of the frequency and this may be due, at least in part, to a high rate of consanguinity, a mild sickle cell disease or a bias due to collection of samples in health centres. However, the frequency of Hb S is sufficient to place it as the most frequent genetic disorder in Saudi Arabia. In addition, the health care requirements, psychosocial burden that Hb S ensue and economical consideration require an effective control program to prevent the birth of Hb S homozygotes

Alpha-1-antitrypsin deficiency: an overview of recent advances

Alpha 1-antitrypsin [alpha1 AT], a serpine, is one of the most important proteinase inhibitor in the serum and plays an essential role in protection of the lung tissues against the proteolytic attach of elastase. The gene for alpha1 AT is located on chromosome 14 q 32 and is highly susceptible to mutations. A large number of variants of alpha1 AT are known and some including PiZ and PiS result in alpha1 AT deficiency. In patients with PiZ, the most severe and common alpha1 AT deficient variant, the alpha1 AT protein accumulates in the liver and results in severe hepatic diseases. Other clinical consequences of alpha1 AT deficiency include emphysema in majority of the patients. This state is further aggravated in patients who smoke. Several treatment strategies have been suggested, including replacement therapy by purified alpha1 AT or recombinant alpha1 AT given intravenously or as aerosol. Synthetic peptides, lung transplantation and volume reduction surgery are under investigation and evaluation. This paper updates the information on alpha1 AT and its deficiency state

Diabetes mellitus and impaired glucose tolerance in Saudi Arabia

This study was undertaken to determine the prevalence of diabetes mellitus [DM], insulin-dependent diabetes mellitus [IDDM], noninsulin-dependent diabetes mellitus [NIDDM] and impaired glucose tolerance [IGT] in different areas of Saudi Arabia. A household survey was conducted in 34 different areas of Saudi Arabia. Demographic data and medical history were taken and filled. Fasting and two-hour post-glucose load blood samples were collected from 23,493 Saudi males and females and blood glucose was estimated immediately. The diagnoses of DM and IGT were made based on the criteria of the World Health Organization [WHO]. Diabetic patients were subgrouped as IDDM and NIDDM on the basis of age of onset and mode of treatment. In the overall group [two to 70 years], the prevalence of IDDM, NIDDM and IGT was 0.193%, 5.503% and 0.498% in the Saudi males and 0.237%, 4.556% and 0.900% in the Saudi females. When grouped on the basis of age, there were 8762 children [<14 years]. Of these children, 15 [0.171%] had IDDM and 13 [0.148%] had maturity onset diabetes of the young [MODY]. The prevalence of IGT in this group was 0.250%. In the 14-70-year age group, the prevalence of IDDM, NIDDM and IGT was 0.239%, 9.50% and 0.717% in the males and 0.248%, 6.820% and 1.347% in the females, respectively. A significant increase [P<0.001] was obvious in the age group >30 years, where the prevalence of NIDDM and IGT rose to 17.32% and 1.30% in the males and 12.18% and 2.2% in the females, respectively. IDDM showed a slight decrease in those over the age of 60 years. These results place Saudi Arabia among the countries that have a high prevalence for DM and a moderate risk for IGT. In light of these findings, it is clear that carefully planned programs are needed to achieve control and prevention of diabetes mellitus in Saudi Arabia

Asp 57 and Arg 52 of the HLA DQ as genetic markers for insulin-dependent diabetes mellitus in Saudis

To investigate the significance of Asp 57 and Arg 52 in HLA DQB-and A chains in the development of insulin-dependent diabetes mellitus [IDDM]. This study was incorporated in a national study of the epidemiology of diabetes mellitus in the Saudi Arab population where analysis for Asp 57 and Arg 52 of the HLA DQ was conducted on samples from patients suffering from IDDM. Subjects studied were 38 patients diagnosed as IDDM using the criteria published by the world health organization and 37 health non-diabetic individuals, selected as controls. The DNA was extracted from the buffy coat and subjected to polymerase chain reaction to amplify the DNA region encoding the HLA DQB-and A-chains. Dot blot analysis of the amplified material was carried out using allele apecific oligonucleotide probes to identify the presence of Asp or non-Asp codons at position 57 and Arg and non-Arg codons at position 52 of the HLA DQB and A respectively. The results demonstrated a significantly higher gene frequency of non-Asp at position 57 [60.5%] and of Arg 52 [46.1%] in the IDDM patients compared with the normal group. On the other hand the gene frequency of Asp 57 and non-Arg 52 were higher in the normal non-diabetic individuals compared with the IDDM group though both non-Asp 57 [43.2%] and Arg 52 [23.0%] were found in the normal non-diabetic controls. These results suggest that the absence of aspartic acid at position 57 of the HLA DQB-chain [i.e. non-Asp 57] and the presence of arginine in position 52 of the HLA DQA-chain [i.e. Arg 52] can be useful, but not confirmatory markers, for susceptibility to IDDM

Prevalence of diabetes mellitus in Saudi Arabia

This study was initiated to determine the prevalence of diabetes mellitus and impaired glucose tolerance [IGT] in the childhood and adult populations in seven different areas of Saudi Arabia. Method: A household survey was conducted, and fasting and 2-hour post-glucose load blood samples were collected from 6368 Saudi males and females and the blood glucose level was estimated. The diagnosis of diabetes mellitus and IGT was based on the criteria of the World Health Organization. Results: The overall prevalence of insulin-dependent diabetes mellitus [IDDM] and non-insulin-dependent diabetes mellitus [NIDDM] in the total population was 0.96% and 4.25%, respectively. The prevalence of NIDDM in females [4.73%] was higher than in males [3.69%], however, the difference was not statistically significant. Children [

Human genome organization-Is there a role for middle eastern scientists?

Though interest in the study of the human genome dates back to the era before James Watson and Francis Crick's discovery of the double helical structure of deoxyribonucleic acid [DNA] in 1953, it was not until the early 1980s that the magnitude of the impact of DNA-related technology was recognized. The rapid increase in DNA-related research, coupled with recognition of the need for mapping the human genome, led to the birth of 'the Genome Project' in 1986. Genome mapping and research into the structure-function relationship are expected to demystify thousands of physical and behavioural disorders with genetic components. The major aims of sequencing strategies are: improvement for carrier detection, differential diagnosis, identification of high risk groups and eventually gene therapy. The human genome project promises to make a major contribution to better understanding of growth and development and has opened new avenues for therapeutic intervention. Several related projects around the world are now underway and several more are likely to start. The Human Genome Organization [HUGO] is the central body to coordinate these massive activities world-wide. Research in molecular biology in the Middle East suffers from lack of expertise and facilities, a shortage of scientific information and appropriate means of communication. However, the scientific body has a global responsibility to enhance and support efforts at enriching knowledge and advancing scientific research. It is within this framework that scientists in the Middle East hope to receive scientific back-up and expertise from appropriate sources. It remains to sensitize the administrative decision makers and to carry out awareness and orientation programmes aimed at achieving recognition of the significance of DNA-related research and its importance, particularly in relation to medicine where practical benefits have been recognized. Identification of expertise/facilities and establishment of collaborative teams at national, regional and international levels would place the scientist on the right track. This paper outlines views on various aspects related to the human genome project and the role of scientists in the Middle East is elaborated upon