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BACKGROUND: 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 METHODS: 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. RESULTS: 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. CONCLUSION: The findings point toward high prevalence of dyslipidemia in type II DM Saudi patients.

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A total of 127 patients with end-stage renal disease (ESRD) including 45 from Al-Madinah and 82 from the Gizan regions of Saudi Arabia were studied to determine the etiology of ESRD. The categorization into various diagnoses were according to established criteria. A total of 22 renal biopsies were also obtained to aid in the diagnosis. The mean age of the study patients was 50 years in Al-Madinah region and 37 years in Gizan region. Overall, the etiology could be established in 56 patients (44.1%) including 31 patients (68.9%) in Al-Madinah and 25 patients (30.5%) in Gizan regions. Diabetic nephropathy was the commonest cause of ESRD in Al-Madinah (45.2%) while obstructive nephropathy was the commonest identifiable cause in Gizan (24%). Our study suggests that diabetes and obstruction are the main conditions against which strategies for prevention and treatment should be directed.

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A comprehensive screening program was initiated in Saudi Arabia in 1982 to determine the frequency of the sickle cell (Hb S) gene in the different regions of Saudi Arabia. Over a period of 10 years 30,055 samples were collected from 36 areas in the five provinces of Saudi Arabia; these were screened using electrophoretic techniques in alkaline and acid pH for the presence of Hb S in heterozygous and homozygous states. The overall prevalence of Hb AS was 7.36% and Hb SS was 1.06%, giving an Hb S gene frequency of 0.047. The results from the different regions were separated and the prevalence of Hb AS and Hb SS and Hb S gene frequencies were calculated in each province and each region. The prevalence of Hb AS and Hb SS cases ranged from O to 25.88% and O to 5.27%, respectively. No case of Hb AS or Hb SS were identified in certain areas of the central province (Al-Russ, Al-Unaiza, Al-Mesnab and Bkaria) and northern province (Qurayat and Al-Jouf). In the southern province both Hb S homozygotes and heterozygotes were encountered in all regions except Farasan Island. In all other regions the Hb S gene was encountered, but at a variable frequency. Applying Hardy-Weinberg equilibrium it was observed that in the majority of the regions the observed Hb S homozygotes were significantly higher compared to the number expected (p < 0.0001). This was believed to be due to bias as the samples were collected in the hospital. The Hb S gene frequency in the different regions ranged from 0 to 0.17 when the frequency was calculated on the basis of both Hb AS and Hb. SS cases, and 0 to 0.13 if the gene frequency was calculated after eliminating the Hb SS cases. A close correlation was observed between the Hb S gene frequency and malaria endemicity. This study shows that the Hb S gene occurs frequently in several regions of Saudi Arabia and there is an urgent need to implement control and prevention programs to reduce the number of Hb S homozygous cases.

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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.

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We conducted a survey of opinion of a sample of senior high school students in Saudi Arabia to evaluate their awareness of the importance of organ donation and concept of brain death. There were 839 students from nine schools, 745 males and 94 females. The participants were not primed about these topics before answering the questionnaire, which was answered at school. The study group declared the level of education of the parents. Twenty three percent knew about the Saudi Center for Organ Transplantation, but 61% could only guess its function. Fifty eight percent could not differentiate between "natural 11 death and brain death and 93% were not aware of how to document it. Elaboration on these questions showed variable explanations. Sixty eight percent agreed to donate organs of relatives in case of brain death, and 91% would donate a kidney to their relatives. However, 38% agreed to donate organs of their own to organ failure patients other then relatives. Thirty five percent knew about the organ donation cards, but only 12% carried them, and only 48% would consent to include the word "donor" on their driving licenses. Forty two percent knew about the opinion of Islamic religion toward organ donation. Thirty one percent agreed to send patients for organ transplantation abroad due to their belief that transplantation technology in Saudi Arabia is lacking, There were no significant differences in the answers according to schools, gender, students of different curricula, having a friend or relative with organ failure, or the level of the education of the parents. This study suggests the great need for education of the new generation about the importance of organ donation and the concept of brain death. We believe that including these topics in the curricula of schools would help disseminating this knowledge to the public in Saudi Arabia.

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The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of beta-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the beta-thalassaemias. In our unit, we initiated studies to investigate the molecular defects in beta-thalassaemias in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing beta(+)- and beta zero-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi beta-thalassaemia patients were IVS-I-110, IVS-II-1, CD 39, IVS-I-5 and IVS-I 3' end (-25), while frameshifts at CD 8/9, Cap+1 (A-->C) and CD 6 mutations were identified at a low frequency. These mutations account for 84.94% of the total beta-thalassaemia mutations. The remaining 15% remain unknown. This is the first report on the type and nature of mutations in Saudi beta-thalassaemia patients. It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of beta-thalassaemia mutations in the Saudi population.

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This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and wife was obtained. The overall rate of consanguinity shows that 57.7% of the families screened were consanguineous. The most frequent were first cousin marriages (28.4%) followed by distant relative marriages (15.2%) and second cousin marriages (14.6%). The families were grouped according to the province of their origin and the consanguinity rates were calculated accordingly. There were slight differences in the consanguinity rates in the five provinces, which ranged from 52.1% to 67.7%. In each province first cousin marriages were the most frequently encountered pattern, ranging from 17.9% to 40.9%. The inbreeding coefficient (F) was calculated for each province and ranged from 0.020 to 0.030. Within each province, there were several significant differences among the populations in the different areas. The highest rate of consanguinity was 80.6% in Samtah and the lowest rate was around 34% in Abha in the South Western province. These results place Saudi Arabia among the countries of the world with a high rate of consanguinity. The possible consequences of increased consanguinity are presented and discussed.

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Maintaining patients with end-stage renal disease (ESRD) on renal replacement therapy is expensive and it is important to increase efforts towards reducing the incidence of ESRD. For this, a sound knowledge of the magnitude of the problem is necessary. This study was undertaken to estimate the incidence of ESRD in two regions of Saudi Arabia namely: Gizan, situated in the Southern area with a population of 654,685; and Al-Madinah, situated in the North Western area with a population of 828,477. All general hospitals and primary care centers under the Ministry of Health in the two regions were included in the study. Those patients in whom two consecutive serum creatinine values above 265 micromol/L were recorded were recruited into the study. There were no non governmental centers offering care for patients with renal failure in the study regions at the time of the study. A total of 108 patients in Al-Madinah region and 187 patients in Gizan fulfilled the criteria of the study. Sex distribution was similar in both regions, 61% male and 39% female. There were 71.3% Saudi and 28.7% Non-Saudi patients in Al-Madinah and 65.2% Saudis and 34.7% Non-Saudi patients in Gizan. Analysis of age distribution showed that the highest prevalence occurred among patients between 41 and 60 years of age in Al-Madinah whereas in Gizan it was between 21 to 50 years. The annual incidence of ESRD in Al-Madinah was 65.2 per million population (PMP) and in Gizan 189 PMP. The higher incidence in Gizan may be due to ethnic, socio-economic and environmental factors. A large scale study covering all parts of the Kingdom is needed to throw more light on such variations in the incidence of ESRD in the Kingdom.

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The beta-thalassemias are a heterogeneous group with respect to molecular pathogenesis, and different populations and ethnic groups differ with respect to the predominating mutations. This variable spectrum of beta-thalassemia mutations has resulted in extensive studies in each population and ethnic group to identify the major mutations. In this study we investigated the prevalence of 14 mutations in 253 beta-thalassemia patients drawn from eight Arab countries (i.e. Jordan, Egypt, Syria, Lebanon, Yemen, and Saudi Arabia), living in Saudi Arabia and attending Ministry of Health hospitals. The mutations investigated included IVS-I-110 (G-->A), IVS-II-1 (G-->A), IVS-I-5 (G-->C), codon 39 (C-->T), IVS-I-1 (G-->A), frameshift at codons 8/9 (+G), frameshift at codons 41/42 (-TTCT), codon 15 (TGG-->TAG), IVS-I-6 (T-->C), frameshift at codon 16 (-C), IVS-II-745 (C-->G), codon 6(-A), IVS-I, 3' end (-25 bp), and Cap +1 (A-->C). The most frequently encountered mutations were IVS-I-110 and IVS-II-1 which were identified in the population of each Arab country. The IVS-I-1 and IVS-II-745 mutations were encountered in Jordanians, Egyptians, and Syrians. The IVS-I-5, codon 39, codon 6, IVS-I, 3' end (-25 bp), and Cap +1 mutations were encountered only in Saudis and not in other Arabs, except codon 39 which was present in the Syrians and Lebanese. Other mutations were generally rare and not specific to any Arab ethnic group. This paper presents preliminary data on the prevalence of 14 mutations in the Arab populations and shows wide variation in the molecular basis of beta-thalassemia in different Arab ethnic groups. Further detailed studies to identify the entire spectrum of beta-thalassemia mutations are stressed.

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The extent of aluminum related bone disease was evaluated in 41 patients on regular maintenance hemodialysis in two dialysis centers in Riyadh, Saudi Arabia. There were 22 males and 19 females aged 20 to 70 years (mean 35.5+11.2 years). Thirty eight of the patients were on aluminum based oral phosphate binders. Investigations performed included serum calcium, magnesium, aluminum and parathormone and radiological investigations including skeletal survey and dual photon absorptiometry. All the patients underwent bone biopsy and the biopsy material was subjected to morphometric studies, including staining for aluminum deposits. The patients were divided into two groups: group 1, (16 patients, 39%) with negative aluminum staining in the bone biopsy tissue, and group 2, (25 patients, 61%) with positive aluminum staining. Bone pain and its distribution as well as fractures were similarly prevalent in both groups. The levels of aluminum in the blood was significantly higher in group 2 (32.9 + 20.2 vs 17.9 + 11.2 ug/L P< 0.05), though it was lower than the lowest accepted toxic level (40 ig/L). There was no significant difference between the two groups in the biochemical or hormonal data, frequency of abnormal radiological signs and pattern of bone histology. Our study indicates that increased aluminum deposition in the bone is prevalent in patients on maintenance hemodialysis using aluminum based phosphate binders, but adynamic bone disease is not prevalent. Further studies may be needed on a larger scale to assess the magnitude of the problem.