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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sickle-cell disease is a well-recognized clinical entity. The pathophysiology of this hemoglobinopathy has been described in detail by numerous investigators since the first case report appeared in 1910. Orthopaedic manifestations of sickle-cell disease account for much of the morbidity associated with this disorder, including pain, osteonecrosis, arthritis, and sepsis. Effective management of these bone and joint sequelae reflect accurate diagnosis, understanding of this disorder's pathophysiology, and knowledge of available medical and surgical treatment alternatives. In this review, the authors summarize the major orthopaedic manifestations of sickle-cell disease with special emphasis placed upon osteonecrosis and osteomyelitis, since these conditions are the most disabling and serious complications in patients with sickle-cell disease.
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PMID:Orthopaedic manifestations of sickle-cell disease. 223 15

Tested the relationship between illness severity and adjustment in 70 sickle cell patients, aged 8-16. Illness severity was measured by frequency of hospitalization and emergency room visits, frequency and intensity of pain crises, and duration of illness. Adjustment variables were IQ, self-esteem, social and personal adjustment, behavioral problems, school performance, and peer relations. Medical variables-associated illness patterns and type of hemoglobinopathy-were also considered. Sex and age were covariates. The hypothesis that illness severity would affect adjustment was generally not supported. Other factors such as SES, family structure, or support systems may affect adjustment and suppress the hypothesized relationship. The need for a more global intervention approach than using illness severity to measure need for psychotherapeutic assistance is suggested.
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PMID:Relation between severity of chronic illness and adjustment in children and adolescents with sickle cell disease. 272 54

It is difficult to recognize and treat the factors that exacerbate the vascular crises of sickle cell disease. We describe a 12-year-old black girl with sickle cell anemia who, since the age of 9 years, has been repeatedly hospitalized for pain associated with vaso-occlusive disease. A diagnosis of obstructive sleep apnea was suggested by the history and physical examination and was confirmed by polysomnography. Following preoperative transfusion, the patient underwent elective tonsillectomy and adenoidectomy. She has been free of vaso-occlusive pain and crises for over two years and has not been hospitalized since her surgery. Post-operative polysomnography has shown no evidence of obstructive sleep apnea. It is our hypothesis that repeated oxygen desaturation during periods of obstructive sleep apnea was the cause of this patient's frequent vaso-occlusive crises. She not only obtained complete relief of her symptoms, but objective sleep study measurements were normal following surgery. Obstructive sleep apnea is a recent diagnosis, and its pathologic effects are only beginning to be known. Physicians taking care of patients with hemoglobinopathies need to be aware of possible contributing factors to their patients' disease, and an aggressive approach to their diagnosis and possible relief should be sought.
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PMID:Exacerbation of sickle cell disease by obstructive sleep apnea. 339 Mar 38

Red cell distribution width (RDW), an electronically determined index of anisocytosis, was examined in 60 patients with sickle cell anemia (Hb SS), 28 patients with hemoglobin sickle cell (SC) disease, and seven patients with sickle cell-beta(+) thalassemia (S-thal). All patients were adults and in the steady state of their disease. The RDW was greater in sickle cell patients than in 39 healthy, age and race matched controls without hemoglobinopathy (Hb AA). Patients with sickle cell anemia had higher mean RDW than those with Hb SC disease or with S-thal. The mean RDWs in the latter two disorders were not significantly different. In SS patients, the RDW correlated significantly with the degree of anemia and reticulocytosis. A group of 18 SS patients was studied while in acute painful crisis. Their mean RDW was not different from that in the steady state. Mean WBC and red cell volume, however, were significantly higher during pain crisis.
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PMID:Red cell distribution width in sickle cell disease. 374 Jul 96

The present study is a two year-follow up of 105 eyes (including 27 aphakic eyes), operated on retinal detachment by silicone oil injection after pars plana vitrectomy. This procedure was chosen either as an initial treatment (37 eyes) or after a classical treatment by external indentation had failed (68 eyes). All cases of retinal detachment were of bad prognosis: macular hole, massive periretinal proliferation, isolated or associated with a tear. Cases of vitrectomy with silicone injection for proliferative retinopathy due to diabetes or hemoglobinopathy were excluded. Operations were performed under a surgical microscope with the help of a corneal contact lens (Goldmann, Kl oti or O' Malley ). Functional and anatomical results, as well as complications, were evaluated at least 2 years after treatment. In 24,7% of cases, vision was improved as compared to preoperative visual acuity. Cataract was a constant complication in all phakic eyes, as silicone oil had not been removed within the first 6 months. Intraocular hypertension developed frequently both in phakic and in aphakic eyes (29,5 and 33% of cases, respectively) and responded poorly to medical or surgical treatment. Other complications occurred less frequently. They were corneal edema, conjunctival hyperemia and uveitis. Pain imposed the evisceration of 2 eyes. These complications were the consequence of silicone oil toxicity and/or the mechanical effects of intraocular oil. Besides treatment-associated complications, early (36 during the first 6 months) as well as late (2 between the 12th and 18th months) recurrences of retinal detachment were observed. In contrast to these fair functional results, anatomical results were good in most cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of retinal detachment by vitrectomy and injection of silicone oil. Long-term results and complications in 105 cases]. 647 Apr 12

Children with sickle cell disease frequently present to the emergency department (ED) for evaluation of fever or management of pain. We retrospectively analyzed all ED visits by children with sickle hemoglobinopathies during 1990, excluding those for trauma. Of 146 visits by 56 children, 73 (50%) were classified as "Painful Events," 43 (29%) as "Febrile Events," 20 (14%) as "Painful and Febrile Events," and 10 (7%) as "Other." Hospital admission occurred for 42% of Painful Events versus 70% of Febrile Events (P = 0.008) and 85% of Painful and Febrile Events (P = 0.002). For Painful Events, location of pain was not associated with hospitalization, but pain less than 24 hours in duration before the ED visit (P = 0.002) and administration of intravenous fluids and analgesia (P = 0.001) were associated with admission. For children evaluated for Febrile Events, age less than six years (P = 0.016) and maximum temperature greater than 39 degrees C (P = 0.011) were associated with subsequent hospitalization, but total white blood cell count and absolute neutrophil count were not. For Painful and Febrile Events, pain less than 24 hours (P = 0.029) was associated with hospital admission, but age, maximum temperature, white blood cell count, and absolute neutrophil count were not. Although prospective studies are needed to validate these data, the identification of factors predictive of hospital admission should expedite ED care to sickle cell patients.
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PMID:Emergency department visits by children with sickle hemoglobinopathies: factors associated with hospital admission. 773 71

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.
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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)
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PMID:Outcome of pregnancies complicated by sickle cell and sickle-C hemoglobinopathies. 804 82

Neonatal screening for hemoglobinopathies, coupled with comprehensive medical care that includes parental education, prophylactic penicillin, and immunizations, has markedly reduced mortality from sickle hemoglobinopathies during infancy and early childhood. However, despite an increased knowledge of pathophysiology, current therapy does little to prevent acute, noninfectious complications such as anemic crises, pain events, or strokes; nor does it reliably prevent or delay the development of chronic organ damage. Recent publications have increased our understanding of factors that contribute to the clinical heterogeneity of sickle hemoglobinopathies, improved modestly our ability to identify and treat acute complications, and provided real hope for the development of potentially curative therapies. Prospective therapeutic trials of hydroxyurea and of bone marrow transplantation have recently begun.
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PMID:Sickle hemoglobinopathies. 837 29

Avascular necrosis of the femoral head (ANFH) is one of the crippling complications of sickle cell disease (SCD), and to date there is no classification that could identify patients in the early phase of the necrosis. Based on the experience of 66 ANFH in 43 patients with SC hemoglobinopathy, the necrosed hips were classified into four grades, Grade I to Grave IV, based on patient history, clinical evaluation, and radiologic examination. In Grade I, the patient complains of the mildest symptoms with minimal clinical signs and radiologic changes. The most severe form, Grade IV, is where the findings are unbearable pain with disability and marked roentgenographic evidence of osteonecrosis. This classification identifies patients in Grade I and II, which, with early diagnosis and proper management, could delay further deterioration of the necrosed femoral head.
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PMID:Avascular necrosis of the femoral head in sickle cell disease. An integrated classification. 847 50


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