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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Derivatives of N-hydroxyurea that contain an N-hydroxy group react with oxyhemoglobin to form methemoglobin and variable amounts of nitrite/nitrate. Compounds with an unsubstituted -NHOH group produce the most nitrite/nitrate, which provides evidence for nitric oxide formation. The rate of reaction of these N-hydroxyurea derivatives with oxyhemoglobin correlates well with that compound's oxidation potential. Aromatic N-hydroxyureas react 25-80-fold faster with oxyhemoglobin than with N-hydroxyurea, suggesting other N-hydroxyurea analogues may be superior nitric oxide donors. Electron paramagnetic resonance spectroscopy shows that the formation of a low-spin methemoglobin-hydroxyurea complex is critical for iron nitrosyl hemoglobin formation. These results show that iron nitrosyl hemoglobin formation from the reaction of hydroxyureas and hemoglobin requires an unsubstituted -NHOH group and that the nitrogen atom of the non-N-hydroxy group must contain at least a single hydrogen atom. These results should guide the development of new hydroxyurea-based nitric oxide donors and sickle cell disease therapies.
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PMID:Hydroxyurea analogues as kinetic and mechanistic probes of the nitric oxide producing reactions of hydroxyurea and oxyhemoglobin. 1290 79

A method using dianisidine is described to measure promptly the total plasma peroxidase (POX) activity of methemoglobin and other ferrihemes. Methemoglobin (35 mg/dL) is used as POX standard. Three-minute POX activities and total POX concentrations measured by a classic benzidine method were compared in a three-patient trial with citrulline supplementation. High POX values became progressively lower. In two of the patients, 3-minute POX activities were reduced more than total concentrations. Oral citrulline reduced harmful plasma ferriheme levels. Free ferriheme also exhibited POX activity. POX levels may be useful to judge severity in sickle cell anemia and to monitor therapeutic efficacy.
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PMID:Simplified method to assay total plasma peroxidase activity and ferriheme products in sickle cell anemia, with initial results in assessing clinical severity in a trial with citrulline therapy. 1452 13

Sickle cell anemia is a disease caused by production of abnormal hemoglobin, which binds with other abnormal hemoglobin molecules within the red blood cell to cause rigid deformation of the cell. This deformation impairs the ability of the cell to pass through small vascular channels. Sludging and congestion of vascular beds may result, followed by tissue ischemia and infarction. Liver injury can be caused by the adherence of deformed or hemolyzed erythrocytes to hepatic vascular endothelium. Adhesion of large numbers of hemolyzed red blood cells to hepatic macrophages, or occlusion of hepatic sinusoids by fragmented red cells, can also result in injury of the liver. Chronic intrahepatic cholestasis is an uncommon complication in patients with sickle cell disease. The findings in this case suggest that therapeutic erythrocyte apheresis may benefit patients who have unusual complications of sickle cell disease, such as chronic intrahepatic cholestasis in the liver.
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PMID:Sickle cell anemia connected with chronic intrahepatic cholestasis: a case report. 1465 71

Sickle cell disease patients receiving hydroxyurea (HU) therapy have shown increases in the production of nitric oxide (NO) metabolites, which include iron nitrosyl hemoglobin (HbNO), nitrite, and nitrate. However, the exact mechanism by which HU forms HbNO in vivo is not understood. Previous studies indicate that the reaction of oxyhemoglobin (oxyHb) or deoxyhemoglobin (deoxyHb) with HU are too slow to account for in vivo HbNO production. In this study, we show that the reaction of methemoglobin (metHb) with HU to form HbNO could potentially be fast enough to account for in vivo HbNO formation but competing reactions of either excess oxyHb or deoxyHb during the reaction reduces the likelihood that HbNO will be produced from the metHb-HU reaction. Using electron paramagnetic resonance (EPR) spectroscopy we have detected measurable amounts of HbNO and metHb during the reactions of oxyHb, deoxyHb, and metHb with excess hydroxylamine (HA). We also demonstrate HbNO and metHb formation from the reactions of excess oxyHb, deoxyHb, or metHb and HA, conditions that are more likely to mimic those in vivo. These results indicate that the reaction of hydroxylamine with hemoglobin produces HbNO and lend chemical support for a potential role for hydroxylamine in the in vivo metabolism of hydroxyurea.
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PMID:Iron nitrosyl hemoglobin formation from the reaction of hydroxylamine and hemoglobin under physiological conditions. 1554 Dec 95

Sickle cell disease is a genetic autosomal recessive disease of hemoglobin. The disease results from a mutation of the sixth codon of the beta-globin gene, which induces the synthesis of an abnormal hemoglobin called hemoglobin S (HbS). The polymerisation of deoxy HbS molecules causes a chronic hemolytic anemia and vaso-occlusive phenomena. The disease affects mainly people from West Indies and Sub Saharan Africa. Due to recent movements of these populations over the past years, sickle cell disease has spread across all continents. Painful crises, severe infections such as septicemia, meningitis, osteomyelytis, acute anemia episodes, and severe vaso-occlusive events, mainly neurological, are the most frequent complications affecting children. Recent progresses in the care of patients have deeply modified the prognosis. The mean life expectancy of patients is now above 40 years. The conventional treatment includes antibiotics and immunizations, analgesics, and blood transfusion. The effects of chronic blood transfusion, hydroxyurea and bone marrow transplantation are the subject of current comparative evaluations.
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PMID:[Sickle cell disease in childhood in 2004]. 1558 58

Sarcoidosis is a chronic, systemic inflammatory disease of unknown etiology, characterized by noncaseating granulomatous infiltration of any organ. Sickle cell anemia (SCA) is the homozygoid form of sickle cell disease (SCD), which includes a group of genetic disorders characterized by production of an abnormal hemoglobin S (HbS). There are a few case reports with coexistence of sarcoidosis and SCA. We reported a 47-year-old female with SCA and sarcoidosis.
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PMID:Sickle cell anemia patient with sarcoidosis-associated inguinal lymph node and lung infiltration. 1603 82

Sickle cell disease (SCD) is the most common genetic disorder of the blood. The disease produces significantly abnormal hemoglobin (Hgb) molecules in red blood cells (RBCs). The sickling of RBCs occurs when partially or totally deoxygenated Hgb molecules distort their normal disk shape, producing stiff, sticky, sickle-shaped cells that obstruct small blood vessels and produce vasoocclusion as well as the disruption of oxygen to body tissues. Because tissue damage can occur at multiple foci, patients with SCD are at risk for other medical complications including, but not limited to, delayed growth and sexual maturation; acute and chronic pulmonary dysfunction; stroke; aseptic necrosis of the hip, shoulders, or both; sickle cell retinopathy; dermal ulcers; and severe chronic pain. The chronicity of the illness combined with frequent hospitalizations for pain and other medical management can contribute significantly to impaired psychosocial functioning, altered intra- and interpersonal relationships, and reduced quality of life. Unlike previous qualitative reviews of SCD, this article describes the relevant clinical and research data on the relation between psychosocial functioning and SCD in adult and child populations. The authors discuss the significant role of psychosocial issues in the trajectory and management of the disease and conclude that understanding the pathophysiology of SCD without thoroughly understanding the equally important psychosocial influences is misunderstanding SCD.
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PMID:A brief review of the pathophysiology, associated pain, and psychosocial issues in sickle cell disease. 1608 20

Sickle cell disease is a genetic autosomal recessive disease of hemoglobin. The disease results from a mutation of the sixth codon of the beta-globin gene, which induces the synthesis of an abnormal hemoglobin called hemoglobin S (HbS). The polymerisation of deoxy HbS molecules causes a chronic hemolytic anemia and vaso-occlusive phenomenons. The disease affects mainly people from West Indies and Sub saharian Africa. Due to recent movements of these populations over the past years, sickle cell disease has spread across all continents. Painful crises, severe infections such as septicemia, meningitis, osteomyelytis, acute anemia episodes, and severe vaso-occlusive events, mainly neurological, are the most frequent complications affecting children. Recent progresses in the care of patients have deeply modified the prognosis. The mean life expectancy of patients is now above 40 years. The conventional treatment includes antibiotics and immunizations, analgesics, and blood transfusion. The effects of chronic blood transfusion, hydroxyurea and bone marrow transplantation are the subject of current comparative evaluations.
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PMID:[Current developments on sickle cell disease]. 1645 28

Arnold-Chiari malformation is a disorder of the hindbrain which can lead to altered craniospinal pressures and abnormal flow of cerebrospinal fluid. The possibility of increased intracranial pressure imparts significant risk during labor and delivery, and has led to concern over the use of neuraxial anesthesia. Sickle cell disease is a disorder of abnormal hemoglobin that is prone to sickling under stressful conditions. The physiologic and metabolic changes associated with pregnancy and labor can precipitate sickling, which increases risks for both the mother and the fetus. Vaso-occlusive pain crisis in a parturient with sickle cell disease has been shown to improve with the initiation of neuraxial anesthesia. We present the first reported case of a parturient with both Arnold-Chiari malformation type I and sickle cell disease who presented to labor and delivery with acute pain crisis and who subsequently received epidural labor analgesia and underwent successful vaginal delivery. We include a discussion of the risks associated with pregnancy, labor, neuraxial anesthesia, and delivery in a patient with Arnold-Chiari malformation type I and sickle cell disease.
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PMID:Uneventful epidural labor analgesia and vaginal delivery in a parturient with Arnold-Chiari malformation type I and sickle cell disease. 1691 55

Sickle cell anemia is a disease caused by production of abnormal hemoglobin. Infection, acute splenic sequestration crisis, aplastic crises, acute chest syndrome, stroke, cholelithiasis, renal disease and pain are the major complications. Unilateral or bilateral diaphragm paralysis maybe seen following phrenic nerve injury and with a variety of motor-neuron diseases, myelopathies, neuropathies, and myopathies. Prominent right hemi-diaphragma elevation was observed on chest radiograph of a 14 years' old female patient with sickle cell disease. Her medical history yielded neither trauma nor intra-thoracic surgery. She didn't have either motor deficit or sensation disorder on any region of her body. Thorax CT yielded no lesion except the significantly elevated right diaphragm. Her cranial CT showed no lesion, too. Diagnosis of right hemidiaphragm paralysis was confirmed by positive Hitzenberg Sniff test on fluoroscopy. Although several pathophysiologic mechanisms are known to be involved and lead to central neurologic complications in sickle cell disease, involvement of peripheric nerves have not been reported. Here we present a 14 years' old female patient with sickle cell anemia and unilateral diaphragm paralysis, co-existence of which have not been reported so far.
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PMID:Co-existince of sickle cell disease and hemidiaphragm paralysis. 1720 26


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