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

The surgical aspects of the management of patients with homozygous beta-thalassaemia are reviewed, and the operative findings in 10 patients with the disease who underwent splenectomy are described. Postoperatively, blood consumption was reduced and there was a longer time interval between transfusions needed to maintain the haemoglobin level. Hyperplastic lymph nodes containing erythropoietic elements are always present, and the first reported case of extrabiliary obstructive jaundice caused by this tissue is included. All the patients survived for 2-3 years after treatment and there were no serious infections. All received prophylactic oral penicillin after surgery. Cholelithiasis was not found. Two malleolar ulcers were successfully grafted with split skin after preparation of the craters with silver sulphadiazine cream.
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PMID:Some surgical aspects of homozygous beta-thalassaemia. 85 80

Laparoscopic cholecystectomy is increasingly being used in adults with gallbladder disease. Despite the exponential increase in the number of laparoscopic cholecystectomies performed in adults, there are very few reports of its use in children. It is thought that gallstone disease is rare in childhood. Since the introduction of ultrasonography, it is used almost routinely for evaluating children with abdominal pain, and cholelithiasis is being increasingly recognized in children. Since the beginning of 1991 we evaluated 7 children for biliary colic, and on sonography gallstones were demonstrated in all of them. 1 boy also had thalassemia and another hyperlipidemia; the other 5 developed symptoms of biliary colic without any history of hematological or other disease. 5 underwent laparoscopic cholecystectomy without complication. In the other 2 laparotomy was performed. In 1 suspected damage to the common bile duct during laparoscopy required direct visualization, but no damage was found. In the other, no gallbladder was identified on laparoscopy; laparotomy confirmed the diagnosis of congenital agenesis of the gallbladder with several technical modifications. We found laparoscopic cholecystectomy to be both safe and effective in children. Its advantages include shorter hospitalization, decreased postoperative discomfort and a much shorter interval between operation and return to normal activity.
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PMID:[Laparoscopic cholecystectomy in children]. 138 28

The records of 48 patients with homozygous beta-thalassemia were reviewed for evidence of cholelithiasis by abdominal ultrasonography or plain abdominal X-ray. The presence of cholelithiasis was reported in 25 patients (52%). The incidence increased with age to 83% in patients over 31 years of age. Gallstones were more frequent among patients with beta-thalassemia intermedia and with less blood transfusion requirements. Eleven patients with cholelithiasis (44%) became symptomatic. Eight received operations on an elective or semielective basis. Another patient had incidental cholecystectomy during splenectomy. The preoperative evaluation included abdominal ultrasonography, nucleotide biliary scan and evaluation of the cardiopulmonary status. Due to the longer survival of patients with homozygous beta-thalassemia, the problem of cholelithiasis is becoming more frequent.
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PMID:High incidence of cholelithiasis in older patients with homozygous beta-thalassemia. 210 49

Since 1973, 419 children (233 boys, 186 girls) with chronic haemolytic anaemia (mean age, 10.2 +/- 3.5 years) have been splenectomised. Fifty-three (12.6%) have also been cholecystectomised because of cholelithiasis. Between 1973 and 1982, cholecystectomy and splenectomy were performed at the same time in symptomatic patients. Later, between 1983 and 1987, cholecystectomy was also performed in clinically asymptomatic patients with positive sonographic findings. In the first period, 11 thalassaemic patients (45.8%) were cholecystectomised a short period after splenectomy (in two cases, only 2 and 3 weeks later). Between 1983 and 1987, when asymptomatic patients with cholelithiasis were screened by sonography, simultaneous cholecystectomy and splenectomy were performed in 13.6% of the patients with thalassaemia, in 41% of the patients with sickle cell or microdrepanocytic disease, and in 22.2% of the patients with spherocytosis. As there is a high incidence of asymptomatic cholelithiasis and hypersplenism in patients with chronic haemolytic anaemia, screening for gallstones should precede splenectomy. Simultaneous cholecystectomy should be performed in patients with cholelithiasis.
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PMID:Experience of splenectomy and cholecystectomy in children with chronic haemolytic anaemia. 273 20

Experience with elective cholecystectomy in ten patients with sickle cell disease and one patient with sickle-thalassemia from 1977-1984 was reviewed. In contrast to an earlier review from our institution, the current series had a low morbidity. This improvement is attributed to careful perioperative care, especially preoperative transfusion, hydration, and oxygenation. Because of the increasing longevity of sickle cell patients, because of the incidence of eventual significant complications of even asymptomatic cholelithiasis, and in order to simplify medical management by eliminating the diagnostic confusion between acute cholecystitis and sickle cell hepatobiliary crisis, the authors believe that elective cholecystectomy is to be recommended for the sickle cell patient with asymptomatic gall stones.
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PMID:Elective cholecystectomy for the patient with sickle cell disease and asymptomatic cholelithiasis. 395 72

Cholelithiasis is a common complication of homozygous sickle cell disease. The frequency of gallstones appearing in patients with heterozygous sickle hemoglobinopathies is unknown. We performed sonographic tests on 65 unselected patients with major sickle hemoglobinopathies. Cholelithiasis was found in 11 (26%) of the 42 patients with hemoglobin SS, in three (20%) of the 15 with Hb SC, and in one (12.5%) of the eight with Hb S-beta-thalassemia. There was a correlation between the presence of gallstones and increasing age. All patients with major sickle hemoglobinopathies are at risk for the development of biliary tract disease.
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PMID:Cholelithiasis in patients with major sickle hemoglobinopathies. 669 15

A review of the hospital course of 82 splenectomies in children performed in the past 15 years has been carried out. Three indications have been identified: therapeutic, diagnostic, and traumatic. Thalassemia was identified as the commonest indication. Comparisons of the spleens removed showed that those from thalassaemia patients were the biggest, while those removed for idiopathic thrombocytopenic purpura (ITP), lymphoma staging, and trauma, were small. Twenty-eight per cent of patients had accessory spleens. Intrathoracic complications were frequent in the traumatic cases, whereas wound complications were commoner after splenectomies carried out for haematological reasons. No gallstones were detected. The platelet response to the various indications was studied and compared. There were two postoperative deaths.
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PMID:Splenectomy in children in Hong Kong. 693 77

Bone changes of varying degree and distribution were observed by the Authors in 10 carriers of beta-thalassaemia intermedia in skull, ribs, hand, elbow and knee bones. When they are present, skeletal changes are the same of homozygous beta-thalassaemia, but less marked and spread. Instead, symptomatology is more homogeneous, usually characterized by mild anaemia and morphological changes of red cells with haemoglobin values in the 6-11 g/dl range, splenomegaly, jaundice, gallstones, crural ulcers. The clinical state goes through the asymptomatic condition to a more severe condition with typical appearance of Cooley's anaemia.
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PMID:[Skeletal changes in intermediate beta-thalassemia. Clinical and radiological study]. 706 36

In the past three years 42 patients with heterozygous beta-thalassemia have been observed in our clinic. This group included 39 foreign and three German patients. A ratio of the MCV and the number of erythrocytes below 14 and normal serum iron level distinguish between the hereditary anemia and iron deficiency anemia. The diagnosis is confirmed by haemoglobin electrophoresis. For recognition of the most frequent type in Europe - the heterozygous beta-thalassemia - the demonstration of an elevated HbA2 level by simple microcolumn technique is sufficient. Ten out of 42 patients have been operated because of cholelithiasis. Five additional persons revealed gall bladder stones by ultrasonography. The high incidence of 36% in relatively young patients probably is due to longstanding hemolysis, which produces usually radiolucent pigment stones. Therefore attempts to dissolve gall bladder stones in patients with thalassemia do not seem to be rewarding.
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PMID:[Diagnosis of heterozygous beta-thalassemia]. 707 13

Evidence from structural studies of DNA suggest that the sickle cell mutation has arisen on at least three separate occasions in Africa and as a fourth independent mutation in the Eastern Province of Saudi Arabia or India. The pathophysiology of sickle cell disease is essentially similar in these different areas although the frequency and severity of complications may vary between areas. Generally, the chronic haemolysis and resulting anaemia is well tolerated, although serious morbidity and occasionally mortality may be associated with the aplastic crisis or cholelithiasis. Exacerbation of anaemia below steady state levels occurs with chronic glomerular damage and renal failure, especially in older patients. Most of the morbidity of the disease arises from bone marrow necrosis in the painful crisis or from vaso-occlusive manifestations. Changes in the splenic circulation result in life-threatening episodes of acute splenic sequestration, the chronic morbidity of hypersplenism, and splenic dysfunction renders children prone to pneumococcal septicaemia. Chronic organ damage contributes to chronic leg ulceration in adolescence and progressive renal, pulmonary, and occasionally cardiovascular impairment in later life. The clinical spectrum of homozygous sickle cell disease varies widely between patients. Factors contributing to this variability include alpha-thalassaemia, persistence of high HbF levels, haematology, social circumstances, and geographical and climatic variation. Many of the causes of mortality may be prevented or more effectively treated, leading to increased survival and an increased quality of life in affected subjects.
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PMID:The clinical features of sickle cell disease. 835 19


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