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

Iron deposits in ethionine induced aortic siderosis of rats, in splenic deposits in sickle cell anemia and siderocalcific vessels in cerebral arteriosclerosis were completely removed by exposure to 20 percent hydrochloric acid for 30 min. This contrasted with idiopathic hemochromatosis and idiopathic pulmonary hemosiderosis in which the iron containing organs had to be exposed to 40 percent hydrochloric acid for two hours. The more soluble iron appeared colorless in unstained tissues, purplish blue with hematoxylin and eosin, turquoise blue with Perls' stain, violet blue with gallocyanin and dark-drown with sodium rhodizonate. The less soluble iron was golden yellow in unstained tissues. It appeared golden yellow with hematoxylin and eosin and sodium rhodizonate, but it stained greenish blue with Perls' method and dark brown with gallocyanin. Lead and copper were capable of deposition in some tissues in vitro in the presence of iron and/or calcium but not when these minerals were removed. This phenomenon may be of importance in certain pathological conditions, e.g. hemochromatosis, where on preexisting tissue-iron-complexes there is a secondary deposition of copper.
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PMID:Staining of minerals and solubility of iron in tissues. 6 77

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
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PMID:[Blackfan-Diamond disease and malignancy: cause effect relationships?]. 133 66

To determine the efficacy of a less intensive transfusion regimen in preventing recurrent cerebrovascular accidents and reducing transfusion requirements in patients with sickle cell anemia, we offered to 14 patients who had been undergoing aggressive transfusion therapy (sickle hemoglobin concentration kept less than 30% of total) for a mean of 9 years the option of either diminishing or stopping transfusion therapy. Thirteen patients chose to continue a modified transfusion regimen to maintain sickle hemoglobin concentration less than 60%; 10 of these patients have now been followed for 1 year or more (12 to 27 months, mean 15.5 months). There have been no recurrent neurologic events, although two patients have died of complications of hemochromatosis. All patients had a reduction in donor exposure, and there was a mean reduction in net transfusion requirement of 31.4% during the first year after modification. The greatest reduction was achieved in the single patient managed by small-volume (5 ml/kg) simple transfusion rather than partial packed cell exchange. We conclude that although long-term consequences of less aggressive transfusion therapy are unknown, the use of such a regimen may be reasonable, particularly in patients with significant transfusional hemochromatosis.
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PMID:Less intensive long-term transfusion therapy for sickle cell anemia and cerebrovascular accident. 173 Oct 25

A 50 year-old patient with sickle cell anemia was seen who had received only two units of blood during his lifetime. He had marked iron overloading, cirrhosis of the liver, arthralgia, and mild glucose intolerance. We believe the iron overloading was associated with hereditary hemochromatosis rather than sickle cell anemia because he had HLA-A3 and B7 antigens, and hepatic iron deposits were primarily in parenchymal cells rather than Kupfer cells. The coexistence of either homozygous or heterozygous hemochromatosis should be suspected in sickle cell patients with organ damage from iron overloading.
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PMID:Sickle cell disease and hemochromatosis. 195 9

The spleen was assessed in 10 patients with sickle cell disease studied with computed tomography (CT) for abdominal pain and/or unexplained fever. Patients with homozygous sickle cell anemia were found to have small, densely calcified spleens with occasional low-density infarcts. Five of six had hepatomegaly, and there was one case each of hepatic abscess, infarcts, and hemochromatosis. All patients with heterozygous sickle cell disease were found to have splenomegaly, with a variety of findings including acute hemorrhage, acute and chronic infarcts, rupture, and possible sequestration. It was concluded that CT is useful for evaluating the status of the spleen and liver in symptomatic patients with sickle cell disease.
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PMID:Computed tomography of the spleen and liver in sickle cell disease. 661 Oct 49

Transfusion-induced hemochromatosis is a potential therapeutic complication of the management of sickle cell anemia. Selective transfusion with young erythrocytes (neocytes), which theoretically have a longer life-span than do regular donor red cells, could decrease transfusion frequency and reduce iron deposition in the sickle cell patient. Using blood cell separators, a method has been devised to prepare neocyte units for transfusion. Neocyte enrichment was evaluated by reticulocyte count and mean red cell age was estimated from erythrocyte pyruvate kinase, an age-dependent enzyme. These neocyte units have an average estimated men cell age of 30 days compared to 60 days for unfractionated units. Radiochromium studies in seven splenectomized thalassemia major patients revealed an average half-life of 47.4 days for neocytes stored in the frozen state compared to an average half-life of 29.5 days for standard frozen red cells. Neocyte aliquots collected from three normal, eusplenic donors had an average estimated mean cell age of 6.5 days and an average half-life of 57.2 days when reinfused. Neocyte units cost +300 to collect and process compared to $92 for frozen red cells, but use of neocyte units could reduce by one-half the transfusion requirement in transfusion-dependent patients.
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PMID:Transfusions with young erythrocytes (neocytes) in sickle cell anemia. 711 97

In clinical studies, frequent hepatic dysfunction associated with crises in sickle cell disease has been noted, but whether irreversible morphologic changes arise from these transient episodes is uncertain. We studied 70 patients with sickle cell disease (57 SS, 12 SC and one S-thalassemia (S-thal) hemoglobin) autopsied at The Johns Hopkins Hospital. They ranged in age from five months to 75 years (average 21 years) and 35 (50 percent) were female, In 64 patients (91 percent), livers were enlarged and had distention of Kupffer cells with phagocytized sickled red cells; this was massive in 10. In 19 patients (27 percent) the sinusoids were markedly distended with sickled red cells and appeared obstructed. Focal parenchymal necroses were present in 24 patients (34 percent) and were explained in 12, eight by cardiac dysfunction and four by sepsis. Reparative changes, portal fibrosis and regenerative nodules were each found in 14 patients (20 percent), only one of whom had a known history of viral hepatitis despite the frequency of transfusions. Cirrhosis of unknown cause was present in seven patients and cardiac cirrhosis in one. Cirrhosis with hemochromatosis was present in three patients and 30 others had parenchymal iron accumulation. Thus, unexplained hepatic necroses, portal fibrosis, regenerative nodules and cirrhosis were frequently encountered in these patients. This spectrum of liver disease appears to be best understood as a consequence of recurrent vascular obstruction, necrosis and repair arising as a component of sickle cell disease.
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PMID:The liver in sickle cell disease. A clinicopathologic study of 70 patients. 744 49

Although osteoarthritis is characterized by a uniform pattern of clinical and radiological manifestations, it is a syndrome that can be produced by a variety of causative factors. Rare causes of osteoarthritis can be categorized as follows: 1) systemic metabolic disorders due to known biochemical and/or genetic abnormalities, such as hemochromatosis, ochronosis, Wilson's disease, Ehlers-Danlos syndrome (and probably the "idiopathic" joint hypermobility syndrome), sickle cell anemia, and thalassemia; 2) endocrine disorders, such as acromegaly, whose joint manifestations are now well-known, and hypothyroidism; 3) Paget's disease of bone, osteopetrosis (which induces changes in bone elasticity), and other systemic bone diseases; 4) dysplasias, which form a vast group including familial polyepiphyseal dysplasia, spondyloepiphyseal dysplasia congenita (especially its milder forms), Stickler's syndrome, osteo-onychodysplasia, Kniest's dysplasia, trichorhinopharyngeal syndrome, and a group of diseases that affect the epiphyses; 5) endemic forms of osteoarthritis, e.g., Mselini disease, Kashin-Beck disease, and Malnad disease, which are unknown in western Europe but have been reported to affect thousands of individuals in endemic areas. All these disorders are usually responsible for premature osteoarthritis, whose presentation sometimes bears the imprint of the causative abnormality but can be identical to that of common osteoarthritis. The effects of toxic substances (Kashin-Beck disease) or genetically-determined collagen II abnormalities (epiphyseal dysplasias) may explain the occurrence of these rare forms of premature osteoarthritis.
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PMID:[Osteoarthritis of rare etiology]. 785 7

We report four sickle cell anemia patients who have received multiple blood transfusions and have been non-compliant on Desferal chelation therapy. Abdominal ultrasonography demonstrated an echogenic pancreas in all four patients. Magnetic resonance imaging in three patients revealed decreased signal intensity in all sequences in the pancreas and liver. All four patients had marked iron deposition on liver biopsy. To our knowledge, increased echogenicity of the pancreas secondary to hemosiderosis (2 degrees hemochromatosis) in sickle cell patients has not been reported in the radiologic literature.
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PMID:Transfusional hemosiderosis in sickle cell anemia: another cause of an echogenic pancreas. 851 39

The correction of anemia in patients with chronic renal failure (CRF) has become the most important application of recombinant human erythropoietin (rHuEpo). The merits of rHuEpo therapy in patients with CRF are overt. Firstly, patients with CRF have an absolute deficiency in endogenous erythropoietin production and a relatively low maintenance dose of rHuEpo (often less than 100 IU/kg body weight per week) is effective in avoiding regular transfusions in the majority of the patients with CRF. Secondly, rHuEpo is able to avoid long-term complications of frequent transfusions (hemochromatosis, transfusion-transmissible diseases). Thirdly, patients with uremia notice a considerable improvement in quality of life (QOL) after initiation of rHuEpo. These advantages justify administration of this costly drug in CRF patients. The use of rHuEpo outside the setting of uremia do, however, not cover the complete spectrum of beneficial effects as compared to its use in (pre)dialysis patients. The aim of this overview is to provide some annotations on recently approved (cisplatin-induced anemia, preoperative anemia, zidovudine-related anemia) and possibly future (several types of malignancy and inflammation) indications for rHuEpo in non-uremic patients, leaving out the correction of anemia due to relatively uncommon disorders in the Dutch population (such as sickle cell anemia and thalassemia).
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PMID:Erythropoietin treatment for non-uremic patients: a personal view. 1004 90


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