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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Up until recently in clinical practice suspected hemochromatosis with a pathological iron-screening test (plasma iron, percentage transferrin saturation, serum ferritin, desferrioxamine-induced urinary iron excretion) made a liver biopsy necessary. Today, as a first step, the density of the liver parenchyma can be measured by means of computed tomography. Normal findings obviate the need for laparoscopy. Since the late forties weekly or twice weekly phlebotomy has been the sole form of treatment for manifest idiopathic hemochromatosis. In the mid-sixties the hopes placed in chelating substances (desferrioxamine) were not fulfilled, because the plasma half-life (only 7-10 minutes) of this drug was too short. Even with several daily injections only a small amount of iron was removed from the body tissue (10-25 mg daily urinary iron excretion). The introduction of portable infusion pumps in the late seventies offered us a new possibility of administering desferrioxamine by subcutaneous injection (Propper et al., 1976). Until that time such treatment was successfully used only in the field of pediatrics to treat secondary transfusion hemochromatosis in thalassemia. In one case of idiopathic hemochromatosis with severe organic involvement (right heart failure, repeated esophageal hemorrhage and bronzed diabetes) we had to achieve rapid iron elimination, and for this purpose we used continuous long-term desferrioxamine administration by means of a portable infusion pump (Autosyringe) in addition to phlebotomy. Since, particularly in the critical initial phase of treatment when heart failure was always threatening, great care had to be exercised in the use of phlebotomy, iron removal was achieved largely by desferrioxamine administration (daily up to 240 mg iron elimination in urine and stools).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:New diagnostic and therapeutic possibilities in manifest idiopathic hemochromatosis. 651 41

A pedigree was studied in which five individuals with beta-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults, ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree, five identifiable HLA haplotypes were associated with hemochromatosis alleles. Only individuals with two hemochromatosis alleles (homozygosity) had heavy iron loads, whether beta-thalassemia minor was present or not. Individuals with beta-thalassemia minor but without a hemochromatosis allele had normal transferrin saturation. A 65-yr-old man with beta-thalassemia minor and a single hemochromatosis allele had only a minimally elevated transferrin saturation (54%). The presence of beta-thalassemia minor did not appear to accentuate the degree of iron loading expected in individuals homozygous or heterozygous for hemochromatosis alleles. Our findings suggest that nontransfusional hemochromatosis found in association with beta-thalassemia minor is due primarily to homozygosity for hemochromatosis.
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PMID:Coincidental nontransfusional iron overload and thalassemia minor: association with HLA-linked hemochromatosis. 727 12

The major clinical problem in patients with thalassemia is iron overloading usually resulting from increased exogenous iron absorption from transfusions. Diseases of various organ systems result, including cirrhosis, cardiomyopathy, diabetes, and other less well appreciated endocrinopathies. Since 1976, we have routinely studied these patients with abdominal computed tomography (CT) and also have scanned other areas of clinical interest. It is the purpose of this report to examine the findings in 35 patients with severe beta-thalassemia and associated hemochromatosis in whom we have tabulated the pertinent CT, clinical and laboratory data.
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PMID:Computed tomographic analysis of beta-thalassemic syndromes with hemochromatosis: pathologic findings with clinical and laboratory correlations. 736 13

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

From a global perspective, severe systemic iron overload occurs predominantly in individuals affected by geographically specific genetic mutations that permit the daily absorption from the diet of more iron than is physiologically needed. Two main types of hereditary iron overload are well recognized: (1) HLA-linked hemochromatosis in populations derived from Europe and (2) iron overload complicating thalassaemia major and intermedia syndromes in Southeast Asia, the Middle East, and the Mediterranean. Another very common form of iron overload occurs in Africa and is clearly related to high dietary iron content; recent evidence suggests that a genetic predisposition may also contribute to the pathogenesis. Patients with iron overload may develop multiorgan system toxicity; aggressive therapy with phlebotomy or iron chelation to remove excess iron from the body prevents organ damage and prolongs life.
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PMID:Etiologies, consequences, and treatment of iron overload. 791 9

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.
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PMID:[Partial splenectomy in thalassemia major. Apropos of 19 cases]. 820 4

A number of studies have shown that regular chelation therapy with deferoxamine is effective in patients with secondary hemochromatosis. However, compliance with these regimen is difficult to obtain in most cases because long-term administration is burdensome. In 3 patients, one each with myelodysplastic syndrome, aplastic anemia and thalassemia intermedia, self-administered subcutaneous one-shot administration of deferoxamine at a dose of 500 mg once or twice daily was carried out over a long period. In all three patients serum ferritin level decreased significantly and the progression of hemochromatosis was prevented. Liver density on computed tomography scan also decreased in one patient. This regimen, in which the patient self-administered deferoxamine subcutaneously one or twice a day is seems to be the most practical method to protect against the progression of hemochromatosis.
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PMID:[Long-term efficacy of subcutaneous administration of deferoxamine in patients with secondary hemochromatosis]. 884

Regular blood transfusions in patients with beta-thalassaemia major lead to secondary hemochromatosis in the majority of cases. As a consequence of chronic iron overload, many endocrinopathies may occur. The most frequent endocrine dysfunction is hypogonadotropic hypogonadism, which is mainly responsible for osteopenia in as much as 80% of thalassemic patients. The frequencies of other endocrine disorders (hypothyroidism, diabetes mellitus and hypoparathyroidism) are lower. We investigated 5 female patients aged 22-25 years for endocrine dysfunction and bone density. All presented with hypogonadotropic hypogonadism and amenorrhea (four primary and one secondary). 4 patients showed absent or delayed pubertal development and short stature (below 10th percentile). In all five, hypogonadism is the most relevant cause of osteopenia as demonstrated by osteodensitometry. Endocrine disorders, especially absent pubertal development, should be detected in good time and treated with hormonal replacement. Established osteopenia is treated hormonally and with vitamin D3 and calcium.
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PMID:[Osteopenia in beta-thalassemia major]. 898 99

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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