Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications
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Alexandra Dorn-Beineke
and Thomas Frietsch
Abstract
We review the current knowledge of the pathophysiology of sickle cell disease (SCD), the clinical complications and the state of the art in SCD diagnostics. Today, a flexible laboratory concept allows the fast and economic clarification of the patients' sickle cell hemoglobin (HbS) status, e.g. additional compound heterozygosities. In contrast to a well-investigated pathophysiology of the disease, factors influencing the severity of symptoms as well as some laboratory findings in SCD still lack a final explanation. In this review, we focus on red cell lysis resistance as an additional diagnostic tool in SCD. There is a need for further studies regarding lysis resistance in blood samples from patients with HbS.
Copyright © 2002 by Walter de Gruyter GmbH & Co. KG
Articles in the same Issue
- Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications
- Family Studies: Their Role in the Evaluation of Genetic Cardiovascular Risk Factors
- Polymorphisms in the Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Patients with Myocardial Infarction
- Effect of S-(1,2-Dicarboxyethyl) Glutathione and S-(1,2-Dicarboxyethyl) Cysteine on the Stimulus-Induced Superoxide Generation and Tyrosyl Phosphorylation of Proteins in Human Neutrophils
- Hyperhomocysteinemia Is Related to a Decreased Blood Level of Vitamin B12 in the Second and Third Trimester of Normal Pregnancy
- Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population
- Umbilical Cord and Maternal Blood Leptin Concentrations in Intrauterine Growth Retardation
- Blood Concentrations of Selenium, Zinc, Iron, Copper and Calcium in Patients with Hepatocellular Carcinoma
- TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E
- Antioxidant Status in Thyroid Dysfunction
- Diagnostic Efficiency of Cystatin C and Serum Creatinine as Markers of Reduced Glomerular Filtration Rate in the Elderly
- Comparing Different Methods for Homocysteine Determination
- Classification of Renal Proteinuria: A Simple Algorithm
- Reference Ranges for Serum Concentrations of Lutropin (LH), Follitropin (FSH), Estradiol (E2), Prolactin, Progesterone, Sex Hormone-Binding Globulin (SHBG), Dehydroepiandrosterone Sulfate (DHEAS), Cortisol and Ferritin in Neonates, Children and Young Adults
- Validation of a Kinetic Model for the Reactions in RIA
- Automated Counting of Cells in Cerebrospinal Fluid Using the CellDyn-4000 Haematology Analyser
- Urine Trans,trans-muconic Acid Levels in Residents of a Business Area of Bangkok, Thailand
- Hemoglobin Electrophoresis in Thai Non-Anemic Pregnant Subjects, a Need for Additional Screening for Hemoglobin E
- Meetings and Awards
Articles in the same Issue
- Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications
- Family Studies: Their Role in the Evaluation of Genetic Cardiovascular Risk Factors
- Polymorphisms in the Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Patients with Myocardial Infarction
- Effect of S-(1,2-Dicarboxyethyl) Glutathione and S-(1,2-Dicarboxyethyl) Cysteine on the Stimulus-Induced Superoxide Generation and Tyrosyl Phosphorylation of Proteins in Human Neutrophils
- Hyperhomocysteinemia Is Related to a Decreased Blood Level of Vitamin B12 in the Second and Third Trimester of Normal Pregnancy
- Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population
- Umbilical Cord and Maternal Blood Leptin Concentrations in Intrauterine Growth Retardation
- Blood Concentrations of Selenium, Zinc, Iron, Copper and Calcium in Patients with Hepatocellular Carcinoma
- TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E
- Antioxidant Status in Thyroid Dysfunction
- Diagnostic Efficiency of Cystatin C and Serum Creatinine as Markers of Reduced Glomerular Filtration Rate in the Elderly
- Comparing Different Methods for Homocysteine Determination
- Classification of Renal Proteinuria: A Simple Algorithm
- Reference Ranges for Serum Concentrations of Lutropin (LH), Follitropin (FSH), Estradiol (E2), Prolactin, Progesterone, Sex Hormone-Binding Globulin (SHBG), Dehydroepiandrosterone Sulfate (DHEAS), Cortisol and Ferritin in Neonates, Children and Young Adults
- Validation of a Kinetic Model for the Reactions in RIA
- Automated Counting of Cells in Cerebrospinal Fluid Using the CellDyn-4000 Haematology Analyser
- Urine Trans,trans-muconic Acid Levels in Residents of a Business Area of Bangkok, Thailand
- Hemoglobin Electrophoresis in Thai Non-Anemic Pregnant Subjects, a Need for Additional Screening for Hemoglobin E
- Meetings and Awards