Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From 1978 to 1988, The Cooperative Study of Sickle Cell Disease observed 3,765 patients with a mean follow-up of 5.3 +/- 2.0 years. One thousand seventy-nine surgical procedures were conducted on 717 patients (77% sickle cell anemia [SS], 14% sickle hemoglobin C disease [SC], 5.7% S beta zero thalassemia, 3% S beta zero + thalassemia). Sixty-nine percent had a single procedure, 21% had two procedures, and the remaining 11% had more than two procedures during the study follow-up. The most frequent procedure was abdominal surgery for cholecystectomy or splenectomy (24% of all surgical procedures, N = 258). Of these, 93% received blood transfusion, and there was no association between preoperative hemoglobin A level and complication rates (except reduction in pain crisis). Overall mortality within 30 days of a surgical procedure was 1.1% (12 deaths after 1,079 surgical procedures). Three deaths were considered to be related to the surgical procedure and/or anesthesia (0.3%). No deaths were reported in patients younger than 14 years of age. Sickle cell diseases (SCD)-related complications after surgery were more frequent in SS patients who received regional compared with general anesthesia (adjusted for risk level of the surgical procedure, patient age, and preoperative transfusion status, P = .058). Non-SCD-related postoperative complications were higher in both SS and SC patients who received regional compared with those who received general anesthesia (P =.095). Perioperative transfusion was associated with a lower rate of SCD-related postoperative complications for SS patients undergoing low-risk procedures (P = .006, adjusted for age and type of anesthesia), with crude rated of 12.9% without transfusion compared with 4.8% with transfusion. In SC patients, preoperative transfusion was beneficial for all surgical risk levels (P = .009). Thus, surgical procedures can be performed safely in patients with SCD.
 ...
PMID:Surgery and anesthesia in sickle cell disease. Cooperative Study of Sickle Cell Diseases. 757 33

The efficacy of a eutectic mixture of local anesthetics (EMLA) in alleviating the pain associated with subcutaneous needle insertion for infusion of the iron-chelating agent, deferoxamine, was examined in 12 patients with homozygous beta-thalassemia. As reported by the patient using a 100-mm visual analogue scale, the pain of insertion was rated as significantly less after application of EMLA (mean +/- SD, 1.5 +/- 2.2 mm) than the pain associated with needle insertion without EMLA (34.8 +/- 33.5 mm, P = .005). Subsequently, in a double-blind randomized trial of 10 beta-thalassemia patients, EMLA was significantly better (5.7 +/- 8.2 mm) than placebo (27.0 +/- 22.8 mm, P = .01) in reducing the pain of needle insertion for deferoxamine infusion. No adverse effects were reported with the use of EMLA cream. These results suggest that EMLA may be effective in reducing the pain associated with needle insertion for subcutaneous deferoxamine infusion in beta-thalassemia patients, which may lead to improved compliance with this irritating, prolonged therapy. The safety of EMLA use in these patients, and others receiving regular parenteral therapy, should now be examined.
 ...
PMID:Use of a eutectic mixture of local anesthetics for prolonged subcutaneous drug administration. 760 20

A 25-year-old African-American man with sickle cell-beta(+)-thalassemia presented with acute asthma of 2 days' duration. The asthma was well controlled by 48 hr, and parenteral medications were changed to oral bronchodilators and steroids. Sixty hours after presentation, he developed pain similar to that of sickle cell vaso-occlusion, for which he received small amounts of analgesics. He died approximately 84 hours after presentation. Autopsy showed extensive marrow necrosis and massive fat embolism. This is the first reported case of fat embolism syndrome associated with this genotype, the mildest of the clinically significant sickle cell hemoglobinopathies. The relationship between these etiologic factors and indications for transfusions are discussed.
 ...
PMID:Fat embolism syndrome associated with asthma and sickle cell-beta(+)-thalassemia. 803 90

Retrospective analysis was made of office and hospital records of patients with sickle cell hemoglobinopathies. Blood products were transfused only when indicated for symptomatic anemia, severe anemia with a hematocrit less than 18%, sickle crisis, cardiovascular instability, and preoperatively. The Fisher exact test and the Student t test were used for statistical analysis; P < 0.05 was considered significant. All mean values are reported +/- 1 standard deviation. From 1981 to 1991, 40 patients with sickle cell hemoglobinopathies had a total of 61 singleton pregnancies: 36 were complicated by SS disease (SSD), 22 by sickle cell disease (SCD), two by sickle-thalassemia, and one had CC disease (CCD). Only patients with SSD and SCD are reported here. The mean maternal age was 24.3 +/- 5.3 and 19.5 +/- 0.6 years in patients with SSD and SCD, respectively. There was a high occurrence of preterm labor (45% and 20%), preeclampsia (20% and 8.7%), pain crisis (50% and 34.2%), pulmonary complications (25% and 16.7%), and cesarean sections (52.6% and 37.1%) in SSD and SCD, respectively. An average of two units of blood was required by 43.1% of the patients. Two patients with SSD had unpreventable deaths. The mean gestational age at delivery was 35.5 +/- 4.3 and 37.0 +/- 3.7 weeks (P < 0.05), and the mean birthweight was 2443 +/- 926 and 2997 +/- 807 g (P < 0.05), respectively. There were two intrauterine fetal deaths and one neonatal death in the SSD group and one neonatal death in the SCD group. The perinatal mortality was 10.5% and 2.9%, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Outcome of pregnancies complicated by sickle cell and sickle-C hemoglobinopathies. 804 82

Nineteen cases of B Thalassemia have benefited from partial splenectomy at the General Surgery Service of Farhat Hached Hospital in Sousse (Tunisia). The partial splenectomy indication was to reduce hypersplenism, thus transfusion needs, to suppress splenic pain and to conserve a splenic remnant, which preserves patients' immunity. The operation was in reality a subtotal splenectomy keeping the lower pole in all cases. We had no per-operatory complication. The preoperatory bleeding was not more serious than in total splenectomy. In all the patients, we noticed reduction of about half the transfusion need, except one who had also a chronic deficit in glyco-six phospho-dehydrogenase. The average hemoglobin rate increased from 60 g/L in the pre-operatory to 80 g/L after the operation. Consequently, this reduction of transfusion needs results in the decrease of the hemochromatosis, which is one of the main complications of hypertransfused thalassemia.
 ...
PMID:[Partial splenectomy in thalassemia major. Apropos of 19 cases]. 820 4

The prevalence and incidence of osteonecrosis (ON) of the humeral head in sickle cell disease was determined by a study of 2524 patients who were entered into a prospective study and followed for an average of 5.6 years. At entry, 5.6% had roentgenographic evidence of ON in one or both shoulders. There was little difference in age-adjusted prevalence among genotypes, but there were striking differences in age-specific rates. Observed at ages ranging from five to 24 years, 3.25% of sickle cell anemia (S/S) patients, but only 1.1% of sickle cell disease (S/C) patients, had ON. No S/beta+ thalassemia patients younger than 25 years of age had ON on entry. The highest age-adjusted incidence rate was found in S/S patients with concomitant alpha-thalassemia (4.85 per hundred patient-years), followed by S/beta zero-thalassemia (4.84 per hundred patient-years), S/beta+ thalassemia (2.61 per hundred patient-years), S/S without alpha-thalassemia (2.54 per hundred patient-years), and S/C (1.66 per hundred patient-years). Only 20.9% of patients reported pain or had limited range of movement at the time of diagnosis. Sickle cell disease is a frequent cause of ON of the humeral head, especially in children and young adults.
 ...
PMID:Osteonecrosis of the humeral head in sickle cell disease. 847 4

Variation in the level of fetal hemoglobin (HbF) accounts for much of the clinical heterogeneity observed in patients with sickle cell disease (SCD). The HbF level has emerged as an important prognostic factor in both sickle cell pain and mortality, and a % HbF of 10-20% has been suggested as a threshold level for diminished clinical severity. The number of erythrocytes that contain HbF (termed F cells) may also be critically important, as F cells resist intravascular sickling and have preferential in vivo survival. Since F cells can be enumerated with high accuracy using flow cytometry methods, we prospectively studied a cohort of 242 children with SCD. Children with HbS and hereditary persistence of fetal hemoglobin (S/HPFH) had essentially 100% F cells. In contrast, children with homozygous sickle cell anemia (HbSS), HbS/beta0 thalassemia, or HbS/beta+ thalassemia had significantly lower mean % F cell values (55.9, 61.6, and 51.3%, respectively; P < 0.001), and children with HbSC had even fewer F cells (27.0%; P < 0.001). There was a highly significant correlation between the % F cells and the log (% HbF), which was observed for the total population of children (r = 0.95, P < 0.001), as well as for each of the individual subgroups of children with HbSS (r = 0.94, P < 0.001), HbSC (r = 0.89, P < 0.001), or HbS/beta0 thalassemia and HbS/beta+ thalassemia (r = 0.95, P <0.001). This logarithmic correlation between % F cells and % HbF has not been previously described and has important implications for the pharmacologic manipulation of HbF in patients with SCD.
 ...
PMID:Quantitative analysis of erythrocytes containing fetal hemoglobin (F cells) in children with sickle cell disease. 898 Feb 59

The non-healing leg ulcer is examined by discussing three disease processes: peripheral vascular occlusive disease (PVOD), chronic venous insufficiency (CVI), and vasculitis. For PVOD, management decisions are based on risk factors and disease history. Comprehensive management includes the discontinuation of smoking, exercise conditioning and regulation of diabetes, hyperlipidemia, hypertension, and the appropriate application of anticoagulant/antiplatelet drugs. Methods of surgical management include bypass with autogenous or synthetic material in addition to reconstructive surgery with patch angioplasty or extra-anatomic bypass, amputation, percutaneous transluminal angioplasty/stents, thrombolytic infusion, atherectomy, intraluminal ultrasound, and angioscopy. The optimal healing environment for all ulcers prevents contamination, pain, and fluid loss. In CVI, higher venous pressure in the veins of the lower limb during exercise results in ambulatory venous hypertension and ulceration. Various theories are associated with the disease and ulceration process; the classic treatment of elevation, ambulation, and compression for venous disease remains unchallenged. Diagnosis is based on history, physical examination, invasive venography, and/or non-invasive studies. Two groups of vasculitic disorders that share varying degrees of vascular inflammation and necrosis are arteritis (lupus, erythematosus, periarteritis nodosa, dermatomyositis) and blood dyscrasias (sickle cell disease, thalassemia). Leg ulcers associated with vasculitis are due to inadequate tissue oxygenation at the local level, are typically chronic, slow to heal, and commonly recur.
 ...
PMID:The non-healing leg ulcer: peripheral vascular disease, chronic venous insufficiency, and ischemic vasculitis. 939 80

Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal (sickle) hemoglobin, resulting in anemia, susceptibility to pneumococcal and other infections, pain, stroke, and multiple organ dysfunctions. The most common types include hemoglobin SS (homozygous) disease, sickle cell-hemoglobin C disease, and the sickle beta-thalassemia syndromes. A randomized controlled trial published in 1986 indicated that daily oral penicillin prophylaxis reduced the incidence of serious infection in young children with SCD and led to widespread adoption of newborn screening programs for SCD. To study the effectiveness and utilization of prevention programs among large populations of infants with SCD, several newborn screening programs in the United States are now attempting to determine rates of complications and actual use of early medical interventions (e.g., penicillin prophylaxis and pneumococcal vaccination). This report focuses on recent mortality in California, Illinois, and New York. In California and Illinois, mortality from all causes among black children born during 1990-1994 with SCD was slightly less than overall mortality for all black children born in the same time period.
 ...
PMID:Mortality among children with sickle cell disease identified by newborn screening during 1990-1994--California, Illinois, and New York. 951 80

An increasing number of adult thalassaemics have been complaining of aches and pains of varying degrees of severity. In a minority the pains are debilitating and there is stiffness in movement. This study is an attempt to understand the osteoporosis of thalassaemia using DEXA and MRI as the main investigative tools. 122 patients with homozygous beta-thalassaemia were examined by DEXA. It was found that almost half had BMD below two standard deviations from the mean for the normal population, especially in the lumbar spine. There was no marked worsening with age. However the proportion of patients who had their first transfusion after the 3rd year (especially after the 6th) was significantly greater in those with the low BMD. There is also an excess of hypogonadic thalassaemics amongst those with low BMD. 72 thalassaemics were examined by MRI of marrow. Hypercellular, dark marrow on T1 weighted images found in young patients (20-30 yr) was replaced by fatty marrow in later life (30-40 yr). In a group of 21 older thalassaemics (33-62 yr) extreme bone marrow expansion was expressed by the reappearance of hypercellular areas, giving the impression of patchiness which affects not only the diaphyses but also the metaphyses. These patients mostly (66%) had thalassaemia intermedia and had started irregular transfusion after the 6th year of life. About 75% had a BMD below 2 SD. The conclusion is that patients who were late in receiving blood and especially those with thalassaemia intermedia had a more expanded bone marrow with pressure on cortical bone which caused pain in several cases. An attempt was made in 10 patients to reduce marrow hyperplasia by using hydroxyurea. Results showed a relief of pain and modification of magnetic signal intensity.
 ...
PMID:Bone pain in thalassaemia: assessment of DEXA and MRI findings. 1009 Nov 46


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>