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

The symptoms of thromboembolism in sickle cell anemia patients with acute chest syndromes are difficult to differentiate from the similar symptoms of painful thoracic crises and infectious pulmonary episodes. Furthermore, the chronic pulmonary abnormalities in sickle cell disease frequently contribute to the confusing results of noninvasive diagnostic procedures usually employed in evaluating pulmonary thromboembolism. In this study the chronic pulmonary status of asymptomatic sickle cell patients was defined, and this information was used in the evaluation of patients with acute chest syndromes suggestive of pulmonary thromembolism. Sixteen asymptomatic sickle cell patients were prospectively studied by chest roentgenography, spirometry, arterial gas analyses, and radioisotopic lung scans. There was an appreciable degree of preexisting chronic restrictive lung disease with mild to moderate arterial hypoxemia and abnormal lung scans in more than half of the patients. These prospective baseline data were incorporated into the diagnostic evaluation of four of these patients who later developed an acute chest syndrome suggestive of pulmonary thromboembolism. Determination of the cause of the chest pain was greatly faciliated by the existence of the baseline pulmonary data. In another patient persistence of abnormal studies following a presumed thromboembolic episode aided diagnostic evaluation when another episode of chest pain occurred. The findings indicate that comprehensive pulmonary studies in sickle cell patients while in an asymptomatic state will provide baseline data which aid the evaluation of possible pulmonary thromboembolism in acute chest syndromes without resorting to high-risk invasive studies.
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PMID:The diagnosis of pulmonary thromboembolism in sickle cell disease. 54 37

A link between cigarette smoking and "acute chest syndrome" in sickle cell anemia is suggested. Acute chest syndrome in the patient with sickle cell anemia is characterized by fever, leukocytosis, cough, chest pain, and pulmonary infiltrates in the chest radiograph. This article describes the results of a study of 69 adolescent and young adult sickle cell anemia patients. Twenty-nine of these patients were smokers, three were former smokers, and 37 were nonsmokers. Patients completed respiratory questionnaires that focused on smoking habits and included a history of chest syndrome. Information obtained was confirmed by review of clinical records. The chi-square test demonstrated a strong relationship between cigarette smoking and chest syndrome in sickle cell anemia. All 29 smokers had a history of chest syndrome, but only 24 of 37 nonsmokers had such a history. Although the exact mechanism of the relationship between smoking and the development of acute chest syndrome remains speculative, cigarette smoking joins infection, hypoxia, acidosis, infarction, dehydration, and analgesics as a causative factor in adolescent and adult patients with sickle cell anemia. Behavioral modification of the smoking habit in patients with sickle cell anemia may decrease the frequency of acute chest syndrome and sequelae of sickle cell lung disease.
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PMID:Smoking is a factor in causing acute chest syndrome in sickle cell anemia. 157 2

Restriction endonuclease analysis was used to detect alpha-gene deletions and to determine the haplotypes in the DNA of the beta S-gene-cluster [Benin, Central African Republic (CAR), and Senegal] in 221 patients with sickle cell anemia (SS). The clinical expression of SS was modified by the beta S-gene-cluster polymorphisms and the alpha-gene status (alpha-thalassemia-2). The overall risk of soft tissue organ failure caused by the obliterative sickle vasculopathy (including stroke, renal failure, chronic lung disease with cor pulmonale, leg ulcers, and young adult death) was increased threefold in those with a CAR haplotype and was decreased in those with a Senegalese chromosome (p = 0.003). In the presence of a Senegalese haplotype, the patient's health is better, and with the CAR haplotype it is always worse. With the Benin, it is intermediate. Acute recurrent clinical events including hospitalized sickle cell crisis, bone infarction, and infection are decreased in frequency in those with a Senegalese haplotype. The risk of most acute events including acute chest syndrome is equivalent in those with Benin or CAR haplotypes. In the United States, alpha-thalassemia-2 is co-inherited randomly among the beta S-gene-cluster haplotypes. Acute events occurring during childhood are minimally effected by this co-inheritance. The risk of soft tissue organ failure is decreased. After the age of 20 years, painful episodes of the lumbar dorsal area are increased in patients who had alpha-thalassemia-2 in association with degenerative bone disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Beta S-gene-cluster haplotypes in sickle cell anemia: clinical implications. 170 Jun 39

Identification of the beta s-gene-cluster haplotype and alpha-gene status provide a useful tool to improve the possibility for early detection in high-risk SS patients. The DNA polymorphisms of the beta s-gene-cluster modify the clinical course in sickle cell anemia especially as it involves the risk of end-stage organ failure of the kidney, lung, and brain. In both Africa and America, the CAR beta s haplotype increases the risk of developing irreversible complications at an early age. The degree of anemia, the Hb F concentration, and the preservation (or lack thereof) of G gamma Hb F is haplotype dependent and correlates with the overall clinical course of the patient. Further modulation of the clinical course by the coinheritance of alpha-thalassemia-2 tends to decrease the risk of soft tissue organ failure but increases the risk of osteonecrosis. A single individual can be expected to fit into the overall pattern. Some sickle related illness will eventually occur in all patients. In the presence of a Senegal haplotype, the patient's health is better, with the CAR haplotype it is always worse; severity is intermediate in the Benin. These genetic markers can be used to identify the endangered patient before the onset of irreversible major organ failure. The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. Such a patient needs preventive therapy before suffering a major hemisphere stroke, losing kidney function, or developing cor pulmonale secondary to restrictive lung disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Sickle cell anemia: beta s-gene-cluster haplotypes as prognostic indicators of vital organ failure. 188 45

Mortality of infants aged 0-30 months was studied in a subdistrict of the eastern Ivory Coast with a population of 240,000 inhabitants. A cluster sample of the type recommended by the World Health Organization for evaluating progress of the expanded program of immunizations consisted of 2 samples with 30 clusters of 70 children each, 1 taken in urban Abengourou and the other in rural cantons of the subprefecture of Abengourou. A standardized questionnaire was administered to all the mothers about their births within the last 3 years. Supplementary questionnaires concerning all deaths of children of the sample mothers were interpreted by 3 physicians who agreed on a probably diagnosis in each case. The survey covered 2375 infants under 1 year and 1825 aged 12-30 months. The total mortality was 103 deaths in the total sample and 70 for infants aged 0-11 months, for a rate of 29.4%. The difference between the urban rate (31.7%) and the rural rate (26.8%) was not significant. The rate varied significantly by sex for deaths due to malnutrition (11 boys, 1 girl), and pneumopathies (6 girls, 1 boy). Mortality varied significantly according to treatment received and place of death. 55% received traditional treatment and 45% modern treatment. 53% died at home, 36% at a health center, and 9% at the home of a healer. Among infants aged 0-27 days, the cause of death was tetanus for 8, prematurity for 12, neonatal distress for 5, neonatal jaundice for 5, and infection for 2. Among infants aged 1-11 months the cause of death was malaria for 10, meningitis for 7, tetanus for 2, diarrhea for 9, pneumopathy for 3, measles for 4, whooping cough for 2, and unknown for 1. Among infants aged 12-30 months the cause of death was malaria for 11, malnutrition for 12, meningitis for 3, pneumopathy for 4, measles for 1, and sickle cell anemia for 2. Malaria was the single most important cause of death followed by malnutrition for the overall sample. In urban and rural areas respectively, the proportions of infants correctly vaccinated for their age groups were 78.1% and 76.0% for those under 11 months; 92.3% and 80.6% for those 12-17 months; 78.3% and 76.6% for those 18-23 months; and 66.5% and 71.4% for those 24 months and over. Mortality rates varied very significantly by vaccination status. 70 of the children dying had not been vaccinated. Their mortality rate was 19.6%, compared to .5% for children in process of vaccination, 1.1% for children incompletely vaccinated, and .9% for children correctly vaccinated.
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PMID:[Infant mortality and its causes in a sub-district of the Ivory Coast]. 196 15

Major organ failure in sickle cell anemia is the direct consequence of the sickle cell evoked vasculopathy. Major organ failure is first clinically apparent as autosplenectomy, then during childhood presents as cerebral infarction and atrophy, and finally culminates in young adulthood as end stage renal failure (glomerulosclerosis), sickle chronic lung disease, intracranial hemorrhage, retinopathy, disabling leg ulcers, and generalized osteonecrosis. The vascular damage begins years before the overt clinical symptoms are apparent with no pain to act as a signal. Organ damage is progressive and irreversible. The rate of progression is genetically controlled from birth. Except for the management of life-threatening infections that are associated with the non-functioning spleen, disease expression has not been altered by therapy. The focus of future clinical investigations must be the prevention of the vasculopathy and tissue damage which is induced by the sickle red cell.
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PMID:Sickle cell anemia and major organ failure. 210 35

Alveolar cell carcinoma, a neoplasm associated with pre-existing inflammatory lung disease, has not been reported previously in patients with sickle cell disease. We present such a patient and suggest that chronic pulmonary scarring in this setting predisposed to development of his malignancy. As survival increases in individuals with sickle cell disease, alveolar cell carcinoma must be considered in these differential diagnosis of otherwise unexplained chronic pulmonary infiltrates.
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PMID:Alveolar cell carcinoma complicating sickle cell anemia: a chance occurrence? 255 26

Sickle cell chronic lung disease (SCLD) is a prime contributor to mortality in young adult patients with sickle cell disease, especially those with sickle cell anemia (SS). Both perfusion and diffusion defects have been demonstrated, with generalized pulmonary fibrosis and disabling restrictive lung failure. We report 28 cases (25 SS, 1 S beta(0) thalassemia, 1 S beta(+) thalassemia and 1 SO-Arab) which began during the second decade of life and which ended in death by the fourth decade, after an ordered progression to pulmonary failure and cor pulmonale. Myocardial hypoxia with multifocal fibrosis and segmental infarction occurred in more than one-third of the cases and sudden death was a frequent final event. We define 4 stages of SCLD, based on pulmonary function tests, chest roentgenograms, blood gases, and noninvasive cardiac studies; each stage is 2 or 3 years in length, until death ensues in Stage 4. Case-control analysis showed that the significant risk factors associated with SCLD are 1) the total number of acute chest syndrome events in an individual before the onset of SCLD, (p = 0.0001), 2) sickle cell crisis marked by chest pain (p = 0.03) and 3) aseptic necrosis (p = 0.005). Temporal clustering of acute chest syndrome episodes frequently heralds the onset of SCLD. The pulmonary arterial bed, which has low oxygen tension and low pressure in a slow-flow system, is ideally suited to facilitate the polymerization of sickle hemoglobin, causing endothelial damage and culminating in an obstructive arteriolar vasculopathy. Identification of the significant risk factors predictive of SCLD can lead to early diagnosis of the disease; this is the only hope for effective intervention therapy.
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PMID:Sickle cell chronic lung disease: prior morbidity and the risk of pulmonary failure. 333 82

Acute pulmonary complications of sickle cell anemia are sickle cell lung disease and bacterial pneumonias. Chronic abnormalities in lung function include a restrictive ventilatory defect and perhaps increased venous admixture to the pulmonary circulation. Coexisting sarcoidosis may complicate sickle cell anemia and interact to potentiate sickling. Sickle cell lung disease, or acute "chest syndrome," occurs with greatest frequency in adults, is due primarily to pulmonary infarction, and may lead to cor pulmonale. On the other hand, bacterial pneumonia due to Streptococcus pneumoniae occurs with greater frequency in infancy and childhood. Mycoplasma and other organisms may also cause pneumonia with protracted illness and slow resolution. Bacteremia and meningitis may be further complications, particularly in children. Precise diagnosis of the acute febrile pulmonary episode is often difficult. In adults the illness is commonly self-limited. However, a vigorous diagnostic approach is warranted in all severely ill patients.
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PMID:The lung in sickle cell disease: a clinical overview of common vascular, infectious, and other problems. 746 92

The acute chest syndrome (ACS), a pneumonia-like illness in sickle cell patients, is one of the most frequent causes of their morbidity and hospitalizations. Repeated ACS events may predict the development of chronic lung disease. ACS is reported as a frequent cause of death in these patients. We examine here the incidence and risk factors of ACS in 3,751 patients with sickle cell disease who were observed prospectively for at least 2 years (19,867 patient-years [pt-yrs]) as part of a multicenter national study group. The ACS, defined by a new pulmonary infiltrate on x-ray, occurred at least once in 1,085 patients (2,100 events). ACS incidence was higher in patients with homozygous sickle cell disease (SS; 12.8/100 pt-yrs) and in patients with sickle cell-beta(0) -thalassemic (9.4/100 pt-yrs), and lower in patients with hemoglobin (Hb) SC disease (5.2/100 pt-yrs) and patients with sickle cell-beta(+) thalassemia (3.9/100 pt-yrs). alpha-Thalassemia did not affect the rate of ACS incidence in SS patients. Within each Hb type the incidence was strongly but inversely related to age, being highest in children 2 to 4 years of age (25.3/100 pt-yrs in SS) and decreasing gradually to its lowest value in adults (8.8/100 pt-yrs in SS). In SS children (< 10 years of age), we documented an age-related within-person reduction in ACS attack rates. Adults with a higher ACS rate had a higher rate of mortality (from all causes) than those with low ACS rates. This increased rate of mortality might also have contributed to the decline in ACS rate with age. In multivariate analysis, other factors affecting incidence in SS patients were degree of anemia (lower ACS rates in patients with lower steady-state Hb levels) and fetal Hb (lower rates in patients with high fetal Hb). There was also a positive association between ACS rate and steady-state leukocyte count. The relationship of ACS rate to higher steady-state Hb levels in SS patients is unexplained but might be caused by increased blood viscosity.
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PMID:The acute chest syndrome in sickle cell disease: incidence and risk factors. The Cooperative Study of Sickle Cell Disease. 751 23


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