The clinical pathophysiology of sickle cell disease.
Polymerization of deoxyhemoglobin S within sickle erythrocytes is of cardinal importance to each of the clinical complications of sickle cell anemia. Sickle gene expression, however, is modulated by a number of pathophysiological mechanisms that generate vast clinical diversity among sickle cell patients. These processes include genotypic variations, modifications of polymerization, abnormal erythrocyte hydration, membrane defects, and rheologic factors. In many cases it is possible to relate specific pathophysiological mechanisms to particular disease features or to possibilities for therapeutic intervention.
S H
SH
Embury
D000755:Anemia, Sickle Cell / Q000097:blood / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D001424:Bacterial Infections / Q000209:etiology; D001834:Body Water / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004905:Erythrocyte Aging; D004907:Erythrocyte Deformability; D004910:Erythrocyte Membrane / Q000378:metabolism; D004913:Erythrocytes, Abnormal / Q000276:immunology / Q000378:metabolism; D005319:Fetal Hemoglobin / Q000032:analysis; D005786:Gene Expression Regulation; D005838:Genotype; D006450:Hemoglobin SC Disease / Q000097:blood; D006451:Hemoglobin, Sickle / Q000032:analysis; D006801:Humans; D007223:Infant; D011108:Polymers; D011188:Potassium / Q000097:blood; D012212:Rheology; D012805:Sickle Cell Trait / Q000097:blood; D012964:Sodium / Q000097:blood; D013577:Syndrome; D013789:Thalassemia / Q000150:complications / Q000503:physiopathology
D006451:Hemoglobin, Sickle; D011108:Polymers; D005319:Fetal Hemoglobin; D012964:Sodium; D011188:Potassium