Cutaneous lesions during dietetic therapy in patients with maple syrup urine disease

Maple syrup urine disease is a rare, autosomal, recessive, manifestations. We report two affected Arab children organic aciduria previously described with different with skin manifestation

Evaluation of commonly used tribal and traditional remedies in Saudi Arabia

There are several compounds used in traditional prescriptions and as cosmetics, among several tribes in the Kingdom of Saudi Arabia. Nothing pertinent in the literature exists regarding the components and health hazards of these compounds. There are no health education programs to warn the community especially high-risk populations [such as sickle cell anemia and diabetes mellitus patients] of the hazards involved in the use of the traditional preparations. Tradition and folk medicine continue to be used in many developing countries, including the Kingdom of Saudi Arabia. For physicians who are not accustomed to dealing with this entity, particularly when the patients are children, the presentation of an infant with multiple scars can be an upsetting event. It is unlikely that such native medical practices will disappear in a short time. The objective of this review is to highlight the importance of this entity for physicians and practitioners to understand the treatment and the perception of the patient or their relatives. The review also provides our experience in evaluating the plant remedies which were used by our patients

Thalassemia syndromes in Saudi Arabia meta-analysis of local studies

The geographical distribution of Alpha and Beta-Thalassemias differ markedly. Alpha-Thalassemia being particularly prevalent in Southeast Asia and Beta-Thalassemia in the Mediterranean basin. Thalassemia syndromes are common in Saudi Arabia: the Beta-Thalassemia genes occur with variable frequency in different regions of Saudi Arabia and both B+ and Bo thalassemia have been reported. Alpha-Thalassemia is also highly prevalent here and the interaction with the sickle cell gene is commonly observed. Over the last few years, a great deal of information regarding the clinical, molecular and management of these disorders has accumulated in the literature. In this paper we summarize some of the recent studies on the subject along with our experience and our attempt to highlight a number of questions still awaiting answers

Sickle cell trait in the Eastern Province of Saudi Arabia: effect of concurrent alpha-thalassemia

The proportions of sickle haemoglobin in the peripheral blood were determined in 126 asymptomatic sickle cell trait parents of SS cohort babies. The sickle cell haemoglobin [Hb S] levels ranged between 18 and 48% and the values below 38% are presumably due to the interaction of various types of alpha thalassaemia genes with sickle cell genes. The haematological paramers correlated well with the amounts of Hb S in the red blood cells and the comparison of these erythrocytic indices with sickle cell traits from north western province revealed inter-province variations in haematological values, especially the mean cell volume [MCV] and mean cell haemoglobin [MCH]. These two parameters were significantly reduced in the sickle cell heterozygotes from the Eastern province as compared with those from the north western province, in particular the Khaiber area, for which the explanation remains obscure

Measurement of glycated haemoglobins in Saudi patients with sickle cell anaemia and other haemoglobinopathies

The levels of glycated haemoglobins were determined in 284 Saudis [both diabetics and non-diabetics] from the Eastern region with normal and abnormal haemoglobin electrophoretic patterns by the boronate affinity chromatography method. A marked decrease in the level of glycated haemoglobin was observed in patients with sickle cell anaemia. A less significant decrease in glycation was noticed in patients with sickle beta 0 and beta + thalassaemia. These changes presumably reflected an altered circulatory half-life of red cells in these disorders. In diabetic patients having an abnormal haemoglobin not associated with haemolysis, the increased amount of glycation was similar to that observed in patients with normal haemoglobin

Sickle cell anaemia: its clinical manifestations and their management

Sickle cell anaemia can involve any organ system of the body leading to a wide spectrum of clinical manifestations. Furthermore there is marked variation in the clinical expression of the disease in various ethnic groups. For medical practitioners working in areas of high prevalence of this inherited disorder a proper knowledge of the varied clinical features of sickle cell anaemia and their management is essential. This article provides an outline of the clinical manifestations of sickle cell anaemia with therapeutic guidelines

Sickle cell trait - its origin, prevalence and clinical implications

Sickle cell trait resulting from heterozygosity for the sickle haemoglobin gene is widely distributed among the human race. The most implication of sickle cell trait is a genetic one because the individual with sickle cell trait may pass a sickle gene to his offspring and if both parents have sickle cell trait there is a 25% chance of homozygous sickle cell disease in the newborn of each pregnancy. Implementation of various programmes for identification of HB S carriers followed by genetic counseling and prenatal diagnosis for couples at risk is now a major goal for health authorities in many developing countries where the sickle cell gene exists in abundance. Although clinically sickle cell trait is considered to be entirely benign there is convincing evidence of the occurrence of certain abnormalities like hyposthenuria, haematuria, bacteriuria and high altitude splenic infarction in these individuals. The purpose of this article is to review the literature on this common genetic red cell defect with regard to its origin prevalence and clinical implications with reference to the Eastern Province of Saudi Arabia where sickle cell trait exists in the range of 20 to 25% of the population