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 plasma beta 2-microglobulin (beta 2-MG) levels in 118 children with thalassaemia were investigated. The mean level was higher than in healthy children. A significant increase of beta 2-MG was associated with hypersplenism (3.14 +/- 0.6 mg/l). The beta 2-MG levels appeared to reflect reticuloendothelial system activity but were not related to iron overload. Fibronectin levels were generally lower than in healthy adults; profound chronic fibronectin depletion was not accompanied by an increased liability to infection.
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PMID:Plasma beta-2-microglobulin and fibronectin levels in beta-thalassaemia. 642 39

New developments in the symptomatic treatment of beta-thalassaemia major are expected to improve the quality of life and survival of the patients. However, there are still many problems related to the clinical management of the patients due to the severity of the disease per se and the complications of blood transfusion and iron overload. Some of the problems related to the treatment of hypersplenism, post-transfusion complications, bone manifestations, hormonal deficiencies and haemosiderosis are reviewed in the light of recent investigations.
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PMID:Problems related to treatment of beta-thalassaemia major. 704 74

Because of the risk of overwhelming sepsis following splenectomy, and since it is possible to reduce the splenic function while preserving the spleen, the treatment of various hematologic disorders by splenic artery ligation has been attempted in 11 children, among whom 3 under 5 years of age. 3 patients had thalassemia, 4 had hereditary spherocytosis and 4 others suffered from secondary hypersplenism. One patient died of overlooked splenic necrosis. The other patients are well, with an average follow-up of 19 mo. The aim of this study is to find out whether the desarterization produces the expected results and is well tolerated and whether the desarterialized spleen still preserves its ability to protect the host against infection. The satisfactory treatment of hereditary spherocytosis and secondary hypersplenism would indicate that splenic artery ligation offers an alternative to splenectomy, especially in children under 5 year old.
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PMID:[Treatment of hematologic disorders in children by splenic artery ligation (author's transl)]. 707 16

In this study the prevalence of the different beta-thalassaemia types in southern Sardinia was investigated by cellulose acetate and agar gel electrophoresis or globin chain synthesis analysis on column chromatography or both in (1) all the patients (347) presenting with thalassaemia major or intermedia at our haematology service from 1976 to 1979, and (2) a group of 82 patients with transfusion-dependent thalassaemia major randomly chosen from 236 under our care. Apart from six subjects with delta(beta)0/beta+-thalassaemia genotype and eight with beta0/beta+ or less probably beta+/beta/-thalassaemia, all thalassaemia major and intermedia patients studied were beta0-thalassaemia homozygotes. Globin chain synthesis on peripheral blood cells from these patients, performed at different intervals from blood transfusion, showed no incorporation of radioactive leucine into beta-globin peak, the same as before the transfusion. No correlation between kappa/gamma ratios and clinical severity or hypersplenism was found. Globin chain synthesis analysis carried out at birth in three infants later found to have homozygous beta0-thalassaemia demonstrated imbalanced or borderline kappa/gamma ratios.
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PMID:Beta-Thalassaemia types in southern Sardinia. 724 42

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

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

A 35 year old man with a fatal Campylobacter jejuni infection is described. He had HbE/beta zero thalassaemia and had undergone splenectomy nine months previously for hypersplenism; he also had chronic hepatitis C infection. He presented with high grade fever but no gastrointestinal symptoms and rapidly progressed to septicaemic shock and hepatic encephalopathy despite treatment with penicillin, gentamicin, and, later, chloramphenicol and ceftazidime. Only one case of Campylobacter jejuni septicaemia occurring post-splenectomy has been reported previously, also in an iron overloaded thalassaemia patient. Unusual Gram negative bacilli must be covered by the chosen antibiotic regimen when splenectomised thalassaemic patients present with high grade fever.
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PMID:Fatal Campylobacter jejuni infection in a patient splenectomised for thalassaemia. 921 30

Absence of the spleen or splenic function predisposes individuals to risk of overwhelming infection. These infections are most often due to encapsulated organisms, especially pneumococcus, Haemophilus influenzae type b, and meningococcus, but any bacterial agent may cause the rapid onset of septicemia, meningitis, pneumonia, and shock characteristic of the asplenic-hyposplenic condition. The risk is greatest in infants and young children, but asplenic-hyposplenic adults also have an increased risk of infection. Prophylactic antibiotics and immunization with polyvalent pneumococcal, H. influenzae type b, and meningococcal vaccines have reduced the incidence of infections in asplenic-hyposplenic individuals, but even these measures have not eliminated the risk. Surgeons have adopted techniques to save as much splenic tissue as possible and some splenic functions, such as pitting red cells, have been preserved, but conservative surgery has not provided total protection against overwhelming infection. Therapies designed to interrupt the cascade of overwhelming sepsis have not yet been successful. In those cases in which the spleen is surgically removed, the underlying disease or condition leading to splenectomy influences the risk of sepsis. Splenectomy incidental to other operations, such as gastrectomy, results in the lowest risk for overwhelming infection, but this is still some 35-fold greater than the risk for overwhelming infections in the general population. In increasing order of risk, the other main indications for surgical removal of the spleen are idiopathic thrombocytopenia purpura, trauma, transplantation procedures, hereditary spherocytosis, staging Hodgkin's disease, portal hypertension with hypersplenism, and thalassemia. Pathologists should comment on the risk of overwhelming sepsis when spleens are processed as surgical specimens, and should carefully weigh all splenic tissue, including accessory spleens and splenic implants (splenosis), in autopsy cases with and without overwhelming sepsis.
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PMID:Asplenic-hyposplenic overwhelming sepsis: postsplenectomy sepsis revisited. 1117 26

In order to define the morbidity profile of sickle cell disease in Omani children, we analysed data on 97 children (53 boys, 44 girls) aged < or = 12 years admitted under our care in a regional referral hospital between July 1999 and June 2000. Ninety of them had sickle cell anaemia (HbSS disease) and seven had sickle cell thalassaemia (beta zero). Their mean (SD) steady-state Hb was 7.9 (1.2), range 6-10 g/dl. They were admitted on 316 occasions during the 12-month period. The number of admissions per child ranged from one to 12 (mean 3.3). Vaso-occlusive crises were the main reason for admission (83%), followed by severe anaemia (12%) and infections (4%). During the study period, 31% received blood transfusions. Weight faltering was very common, 68% falling below the 5th percentile of the National Center for Health Statistics reference curves compared with 28% of age- and sex-matched non-sicklers (p < 0.001). Other complications included hypersplenism (four), ischaemic necrosis of the femoral head (two), and one case each of acute chest syndrome, acute splenic sequestration, cholelithiasis and pathological fracture of a lumbar vertebra. Overall, 71% of the children had moderately severe or severe disease. This pattern seems to be attributable, at least in part, to meteorological and genetic factors. The severe morbidity profile reported in this study underscores the need to continue the search for optimal management modalities, including the often emotion-laden issue of prevention.
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PMID:Sickle cell morbidity profile in Omani children. 1192 49

Twenty-three children with thalassemia (18 with beta-thalassemia major, 3 with Hb H disease, and 2 with thalassemia intermediate) had total splenectomy (nine beta-thalassemia major patients and two thalassemia intermediate patients) or partial splenectomy (nine beta-thalassemia patients and three Hb H disease patients) as part of their management at our hospital. There were 10 males and 1 female in the total splenectomy group (mean age, 7.8 years; range, 4.5-12 years), and 4 males and 8 females in the partial splenectomy group (mean age, 6.9 years; range, 3-10 years). In all, the indication for splenectomy was hypersplenism. In the partial splenectomy group, two children with Hb H disease required no further blood transfusions. The transfusion requirements of the third patient with Hb H disease decreased from 15 to 11 transfusions per year (from 1.2 g/week Hb drop preoperatively to 0.7 g/week postoperatively), but subsequently his transfusion requirements increased as a result of an increase in the size of splenic remnant. He underwent total splenectomy 1.5 years post-partial splenectomy. For those with beta-thalassemia major who had partial splenectomy, there was a reduction in the number of blood transfusions from a preoperative mean of 15.2 transfusions per year (range, 11-22 transfusions per year) to a postoperative mean of 8.2 transfusions per year (range, 2-11 transfusions per year). Their Hb drop decreased from a preoperative mean of 1.6 g/week (range, 0.8-3.5 g/week) to a postoperative mean of 0.5 g/week (range, 0.2-0.75 g/week). Subsequently and as a result of increase in the size of splenic remnant, their transfusion requirements increased, but none of them to this point have required total splenectomy. Eleven children had total splenectomy. Their postsplenectomy transfusion requirements decreased from a preoperative mean of 17.8 transfusions per year (range, 12-23 transfusions per year) to a postoperative mean of 10 transfusions per year (range, 8-12 transfusions per year), and their Hb drop decreased from a preoperative mean of 1.8 g/week (range, 0.5-2.3 g/week) to a postoperative mean of 0.45 g/week (range, 0.3-0.65 g/week). In conclusion, total splenectomy is beneficial for children with thalassemia and hypersplenism because it reduces their transfusion requirements. Partial splenectomy may be beneficial for those with Hb H disease. However, for those with beta-thalassemia, partial splenectomy is beneficial in reducing their transfusion requirements only as a temporary measure, and it is recommended for children who are less than 5 years of age.
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PMID:Splenectomy for children with thalassemia. 1257 13


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