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)

Many complex forces are at work during adolescence which can contribute to the occurrence of anemia. Careful consideration of the entire patient should enable a physician to identify the unusual as well as the more common causes of anemia in this age group. Anemia in teenage girls is primarily due to menstrual iron loss. In boys, borderline diets and the demands of rapid growth predominate as causative factors. Hemoglobinopathies (thalassemia, sickle cell disease), G6PD deficiency, infectious mononucleosis, and illicit drug use account for small proportions of cases.
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PMID:Anemia in adolescence. 2. Hemoglobinopathies and other causes. 110 36

Sixteen episodes of acute anaemia necessitating urgent blood transfusion have been investigated in 13 children with sickle cell anaemia. In five out of seven episodes there was evidence of increased haemolysis while in 10 out of 16 episodes a profound fall in reticulocyte count indicated marrow erythroid cell failure. Cold agglutinins active at room temperature were detected in 13 episodes, and anti-I specificity was demonstrated in 11. Warmed blood of homologous ABO and Rhesus groups was administered without complication despite difficulty with cross-matching. The exacerbation of anaemia was not due to folate lack, glucose-6-phosphate dehydrogenase deficiency or splenic sequestration, and an infectious agent appeared responsible. The degree of anaemia in homozygous sickle cell disease is usually constant during asymptomatic periods. An episode of sudden profound anaemia (anaemic crisis) may, however, result from marrow hypoplasia, an exacerbation of haemolysis, splenic sequestration, or folate deficiency.
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PMID:Anaemic crisis in sickle cell disease. 115 Aug 83

The glucose 6-phosphate dehydrogenase (G6PD) genotype was determined in 100 male patients with homozygous sickle cell anemia (SS) by a combination of quantitative assay, cytochemical testing, and starch-gel electrophoresis. Of the 100 patients tested, 16 were found to be G6PD deficient (GdA-), AND 84 G6PD normal (22GsA and 62 GdB). This distribution of G6PD genotypes did not differ significantly from that observed in the general population. The level of G6PD activity in GdA- SS patients was nearly always higher than in G6PD-deficient subjects who did not have an associated hemolytic state, but it was nearly always lower than in G6PD-normal subjects. The clinical course of sickle cell disease, including the degree of anemia, was not milder in GdA- than in G6PD-normal patients but could not be proved to be significantly more severe. It was concluded that in this community the incidence of G6PD deficiency in sickle cell anemia was not greater than would be expected by chance, and there was no evidence that the coexistence of the GdA- gene in SS patients ameliorated their disease.
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PMID:Glucose 6-phosphate dehydrogenase deficiency and sickle cell anemia: frequency and features of the association in an African community. 117 93

Sickle cell haemoglobin (Hb S) occurs at a high frequency in the Eastern (EP), South-Western (SWP) and North-Western (NWP) Provinces of Saudi Arabia and the presentation of the Hb S is believed to exhibit clinical diversity in the different regions. Three areas of Saudi Arabia were screened to determine the frequency of Hb S and alpha- and beta-thalassaemias and glucose-6-phosphate dehydrogenase deficiency genes. Furthermore, in an attempt to investigate and compare the clinical and haematological presentation of sickle cell disease (SCD) in the different regions of Saudi Arabia, the individuals identified as Hb S homozygotes were investigated further. The patients were further classified on the basis of whether there was associated alpha- or beta-thalassaemia. A severity index (SI) was calculated for each patient and the clinical presentations and laboratory findings were compared. The results showed significantly variable severity of SCD in patients from different regions. The patients from the EP generally had a mild clinical presentation, while in the SWP and NWP majority of the patients suffered from a severe disease as judged by the SI. No correlation could be established between Hb F level and SI, though the WBC level correlated positively with the SI. The lowest SI values were encountered in patients with associated alpha-thalassaemia who also had the lowest WBC count and MCV and the highest RBC count and packed cell volume.
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PMID:Heterogeneity and variation of clinical and haematological expression of haemoglobin S in Saudi Arabs. 128 1

High incidence of G6PD deficiency has been reported in areas of the eastern province of Saudi Arabia where sickle cell gene is also prevalent. This study was conducted to assess the co-incidence of this enzymopathy with Hb S and its influence upon the clinical and hematological expression of sickle cell disease. Eighty three children with SS disease, 145 patients with sickle cell trait and 100 random cord blood as samples with normal Hb AF, and an FS electrophoretic pattern respectively were examined. The frequency of interaction of G6PD deficiency with Hb S was found significantly increased but no effect of this enzyme defect was discerned on the clinical and hematological status of homozygous sickle cell disease.
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PMID:Effect of G-6 PD deficiency on sickle cell disease in Saudi Arabia. 139 67

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

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

The case for or against mass screening for inherited diseases is discussed. There is universal acceptance for mass screening for phenylketonuria and congenital hypothyroidism. The case for mass screening for galactosaemia and for maple syrup urine disease is not very strong; they could be considered under the heading of 'urgent screening of the sick newborn'. It is difficult to find good arguments for mass screening for congenital adrenal hyperplasia. For screening for glucose-6-phosphate dehydrogenase deficiency and sickle cell disease, the established criteria for mass screening do not apply. A simple tool for early detection is now available and the population afflicted with a mutant gene which causes major health problems should receive special attention from its government. It is too early to offer any comment about cystic fibrosis screening; further developments must be awaited.
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PMID:A clinician's view of the mass screening of the newborn for inherited diseases: current practice and future considerations. 250 12

The lipid bilayer of the adult red cell is supported on its inner surface by a complex arrangement of proteins known as the membrane skeleton. This filamentous network, a major component of which is a multifunctional protein called spectrin, has an essential role in determining the shape, structural integrity, and deformability of the red cell. A significant achievement of modern biochemistry and hematology has been the elucidation of the organization of the components of the membrane skeleton and their relationship to other membrane proteins and lipids. This article reviews current concepts of membrane skeleton structure and function and emphasizes recent advances which have been made in characterizing and classifying molecular defects of the skeleton which manifest clinically with changes in the shape and stability of the red cell. The pathobiology of hereditary skeletal defects associated with hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) are comprehensively discussed. Secondary defects of the membrane skeleton occurring in glucose-6-phosphate dehydrogenase deficiency and sickle cell anemia are also briefly considered.
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PMID:Clinical disorders of the red cell membrane skeleton. 294 65


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