Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alkylureas are capable of inhibiting sickling in vitro and the gelation of solutions of hemoglobin S at concentrations between 0.05 and 0.1 M with increasing effectiveness that is directly proportional to the length of the alkyl chain (butyl greater than propyl greater than ethyl greater than methyl). 6The inhibitory effect is independent of pH between 6.5 and 7.5 and is a process driven by entropy. The alkylureas at concentrations of 0.1 M have minimal effects on several erythrocyte functions. Oxygen equilibria, osmotic fragility, reduced glutathione content, and glutathione reductase activity are totally unaffected, while pyruvic kinase activity is decreased only by butylurea by about 20%, and glucose-6-phosphate dehydrogenase activity is decreased progressively to a maximum of 30% in direct proportion to the length of the alkyl chain. Alkylureas not only inhibit sickling but are also capable of desickling erythrocytes that have been maintained in the deoxygenated state. They have little effect on several erythrocyte functions at antisickling concentrations, but their toxicity must be evaluated before they can be examined as potential therapeutic agents for the treatment or prevention of acute episodes in sickle cell anemia.
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PMID:Molecular and cellular effects of antisickling concentrations of alkylureas. 94 50

The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was determined in 54 male patients with sickle cell diseases: 31 sickle cell anemia (SS), 14 sickle cell hemoglobinopathy (SC) and 9 HbS/beta-thalassemia (S/B-thal) by a combination of quantitative assay, fluorescent spot test and electrophoresis. Of the 54 patients tested, 7 were found to be G-6-PD deficient (G-6-PD-) (3 SS, 3 SC and 1 S/B-thal) and 47 G-6-PD normal (G-6-PD+) (6 G-6-PD A and 41 G-6-PD B). All the deficient patients were G-6-PD A-. The frequency of G-6-PD deficiency did not differ significantly from that observed in the general population. Compared to patients who were not G-6-PD-, there were no significant differences in the hemoglobin concentration and reticulocyte count in patients with sickle cell diseases who were G-6-PD-.
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PMID:Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease in Brazil. 157 71

This study was conducted on sickle cell anaemia (SCA) patients from the south-western province (SWP) of Saudi Arabia to determine the effect of thalassaemias, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and Hb F level on the clinical presentation of sickle cell anaemia. The results showed that associated alpha-thalassaemia improved the haematological parameter values while associated G-6-PD deficiency and high Hb F level did not play a significant role in amelioration of the disease in these patients. Hb S/beta(0) -thalassaemia cases showed a severe anaemia similar to the SCA patients without alpha-thalassaemia. However, considerable improvement of the haematological parameters were found in patients with S/beta(0)-thalassaemia and associated alpha-thalassaemia. This paper reveals that alpha-thalassaemia may partially ameliorate the clinical manifestations of SCA in Saudi patients from the SWP, while high Hb F level and G-6-PD deficiency do not modify SCA to any statistically significant extent.
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PMID:Effect of alpha thalassaemia, G-6-PD deficiency and Hb F on the nature of sickle cell anaemia in south-western Saudi Arabia. 170 30

This study was conducted on 429 blood samples collected from Saudi males and females from Al-Ula in the north-western province of Saudi Arabia in order to determine the frequency of the sickle cell gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency gene, and alpha- and beta-thalassaemia genes, and to investigate the pattern of their interactions. The frequency of the sickle cell gene was 0.0785, while that of the beta-thalassaemia gene was 0.1195. Heterozygous alpha-thalassaemia 2 (- alpha/alpha alpha) was encountered at a frequency of 0.121, while homozygous alpha-thalassaemia 2 (- alpha/- alpha) occurred at a frequency of 0.0046. HbH disease and hydrops fetalis were not encountered. One case with triple alpha-gene arrangement, alpha alpha alpha anti-3.7, was identified. The G6PD deficiency gene frequency was 0.08 and 0.032 in males and females, respectively. Several cases with 2 abnormal genes were encountered. The haematological and biochemical data from the patients with sickle cell disease suggest that the disease in this population is more severe in comparison with cases reported from the eastern population.
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PMID:Patterns of sickle cell, thalassaemia and glucose-6-phosphate dehydrogenase deficiency genes in north-western Saudi Arabia. 205 Mar 79

Sickle cell disease (SCD) occurs at a high prevalence in different parts of Saudi Arabia. Several reports indicate that the disease follows a mild clinical course in the Saudi population of the eastern province of Saudi Arabia, while little is known about the disease in other parts of the country. This study was conducted on 53 children from the Saudi Arabian south-western province with sickle cell disease and 53 age- and sex-matched normal controls (haemoglobin AA phenotype). A statistically significant difference was encountered in the haematological parameters investigated in the two groups. The SCD patients were divided into subgroups with high and low Hb F levels, alpha- and beta-thalassaemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The haematological parameters were then compared in the different sub-groups. No significant difference could be demonstrated in the haematological parameters in patients with a high or low Hb F level. In patients without thalassaemia, the red cell count, total haemoglobin and haematocrit were significantly lower, while MCV, MCH and MCHC were higher. G-6 PD deficiency existed in association with thalassaemias, and apart from a reduction in MCV and MCH, no other statistically significant difference could be demonstrated. Clinical examination revealed a severe disease with several cases suffering from the hand and foot syndrome.
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PMID:On the nature of sickle cell disease in the south-western province of Saudi Arabia. 243 51

Sickle-cell disease with raised fetal hemoglobin is found relatively frequently in the eastern part of the Arabian Peninsula. In contrast to the severe and sometimes life-threatening complications of sickle-cell disease in the black population, Saudi Arabs homozygotes for HbS gene exhibit a mild course for this disease. Here we present a Saudi sickle-cell patient with an unusually low fetal hemoglobin level. Moreover, this individual has beta 0-thalassemia and a deficiency in the enzyme glucose-6-phosphate dehydrogenase. Clinical and hematological examinations revealed a remarkably benign condition. This observation is potentially important since most of the mild clinical symptoms of sickle-cell disease have been attributed to high fetal hemoglobin. Clearly in this case, other factors are operating and may be also operating in those patients with high fetal hemoglobin.
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PMID:A benign sickle-cell disease in a Saudi subject with beta zero-thalassemia and glucose-6-phosphate dehydrogenase deficiency. 247 88

The levels of glycated haemoglobin, fetal haemoglobin and methaemoglobin in 618 Saudi subjects were determined. A statistically significant decrease in the percentage of glycated haemoglobin was observed in all haemoglobinopathic groups studied in comparison to normal controls. However, there was no significant difference in the percentage of glycated haemoglobin in patients with sickle cell anaemia when compared with those sickle cell subjects who were also glucose-6-phosphate dehydrogenase deficient. This suggests that there is little survival advantage or disadvantage in the combination of glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.
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PMID:Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anaemia. 248 87

Malaria parasites are very vulnerable to oxidant stress during the part of their life cycle when they inhabit erythrocytes. As the infection progresses they also activate macrophages, one consequence of which is extracellular release of reactive oxygen species. For these reasons free radicals are frequently discussed in the literature on antimalarial drugs, malarial immunity, and disease pathogenesis. They are also central to arguments explaining how the genetic mutations that lead to sickle cell disease, thalassemia and glucose-6-phosphate dehydrogenase have become so common in tropical regions. This review summarizes how these links between free radicals and this disease came to be understood, and the present state of the field.
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PMID:Some roles of free radicals in malaria. 266 64

This study was conducted on 81 children with sickle cell anaemia (SCA) from the south-western province of Saudi Arabia. Ten of these children had associated glucose-6-phosphate dehydrogenase (G-6-PD) deficiency due to the presence of the phenotype 'G-6-PD Mediterranean'. Slightly lower, statistically non significant, values of red blood cell count, total haemoglobin, packed cell volume and red cell indices were found in SCA patients with G-6-PD deficiency. However, certain clinical features were improved in these patients. Comparison was also made with results published from the eastern province of the country, where SCA is reported to be mild. It is suggested that G-6-PD deficiency due to G-6-PD 'Mediterranean' worsens certain manifestations and improves others in SCA patients with a severe form of SCA, while improvement in haematological parameters is observed in SCA patients with mild SCA.
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PMID:The effects of glucose-6-phosphate dehydrogenase deficiency on the haematological parameters and clinical manifestations in patients with sickle cell anaemia. 276 47

Glycosylated hemoglobin (Hb) was measured in 42 Saudi sickle cell patients and in 38 sickle cell patients with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A statistically significant decrease in the percentages of glycosylated Hb was found in patients with sickle cell anemia when compared with those SS subjects with G-6-PD deficiency. Since glycosylated Hb is considered as an index of the red blood cell's life span, it is suggested that the enzyme defect in these patients is possibly ameliorating the severity of sickle cell anemia.
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PMID:Glycosylated hemoglobin in Saudi sickle cell patients with glucose-6-phosphate dehydrogenase deficiency. 311 11


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