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)

Splenectomy was performed on 152 patients with thalassemia (thal), including 90 cases with Hb H disease, 48 cases with homozygous beta-thal, and 14 cases with Hb E-beta-thal. The therapeutic effect in Hb H disease was 83.3%, and 32.3% in Hb E-beta-thal and beta-thal. In Hb H disease, the hemoglobin (Hb) level increased 30 g/l in 14 of 29 cases. After splenectomy, the life-span (T1/2) of 51Cr RBC in Hb H and Hb E-beta-thal increased to 18.2 +/- 2.6 and 18.2 days, respectively. The number of inclusion (Heinz) bodies attached to the RBC membrane increased after surgery. The interdermal delayed supersensitivity reaction became negative in seven of 26 cases of Hb H disease; the IgG also decreased after surgery. The number of PAS positive foam cells in the spleen correlated to Hb level after surgery. Infection is a common complication.
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PMID:Treatment of the thalassemia syndrome with splenectomy. 320 2

The case of a young man affected by homozygous beta-thalassemia is reported who had serologic findings of a prior HBV infection and who presented with clinical and biochemical acute HBV infection probably caused by HBV reactivation after allogeneic bone marrow transplantation. The patient's clinical history suggests that HBV can persist without serological findings of HBsAg and HBV-DNA in persons previously infected by HBV and that HBV reactivation can occur 2 years after allogeneic bone marrow transplantation, as a result of immunosuppressive therapy or an HCV activation.
Infection
PMID:Clinical and biochemical reactivation of HBV infection in a thalassemic patient after bone marrow transplantation. 950 84

The novel hepatitis TT virus first described by a Japanese group has been reported to be parenterally transmitted and furthermore, to have been detected in patients with hepatitis of unknown etiology. Hence, in the present study its prevalence was investigated within groups at high risk for contracting blood-borne viruses, such as individuals with chronic liver disease, intravenous drug users and recipients of blood and blood products, as compared to voluntary blood donors and pregnant women. To that end, DNA was extracted from sera obtained from the respective patients and subjected to PCR using semi-nested primers. The frequency of TTV DNA detected within high risk groups, such as nine out of 50 patients with chronic non-A-to-G liver disease (18%), nine out of 98 hepatocellular carcinoma cases (9.2%), 17 out of 52 intravenous drug users (32.7%), 15 out of 80 thalassemia patients with multiple blood transfusions (18.8%) and three out of 31 prostitutes (9.7%) exceeded that among voluntary blood donors and pregnant women, which amounted to 14 out of 200 (7%) and seven out of 103 (6.8%), respectively. Additional molecular research should be performed in order to determine its short-, as well as long-term clinical significance.
Infection
PMID:Hepatitis TT virus infection in high-risk groups. 986 59

Plasmodium falciparum malaria, alpha-thalassemia, and anemia are frequent in African children. In 494 nonhospitalized Nigerian children, P. falciparum infection rates, alpha-globin genotypes, and hematologic parameters were determined. P. falciparum infection was observed in 78% of the children. The gene frequency of alpha-thalassemia was 0.28. Infection rates and parasitemia were similar for the 3 alpha-globin genotypes. In contrast to nonthalassemic and heterozygous persons, infection in children with homozygous alpha-thalassemia did not influence hemoglobin values. Because microcytosis and anemia are common features of alpha-thalassemia, their significance in P. falciparum infection was examined. Microcytosis was significantly associated with protection from hemoglobin decrease due to P. falciparum. Moreover, the rate of infection was lower in microcytic than in normocytic anemia.
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PMID:Plasmodium falciparum infection: influence on hemoglobin levels in alpha-thalassemia and microcytosis. 1043 96

Infection is very common in thalassemia and is one of the major causes of death. To date, it is not quite clear why these patients are susceptible to infection. In this study, lymphocyte immunophenotyping for CD3(+) (T-cells), CD3(+)CD4(+) (T-helper/inducer cells), CD3(+)CD8(+) (T-suppressor/cytotoxic cells), CD3(-)CD19(+) (B-cells), and CD3(-)CD16/56(+) (natural killer cells) subsets and expression of the activation antigen CD69 on CD3(+)CD4(+) and CD3(+)CD8(+) T-cells were determined in the whole blood of thalassemia patients, using a three-color flow cytometric technique. Results showed that only splenectomized beta-thalassemia/hemoglobin (Hb) E patients displayed a marked increase in absolute number of all lymphocytes. In addition, splenectomized beta-thalassemia/Hb E showed a significantly lower percentage of CD3(+) cells, with a corresponding increase in CD19(+) cells. These differences, when compared with normal subjects and other thalassemia patients, may be attributed to splenectomy. alpha-thalassemia patients, on the other hand, showed no significant difference from the normal group. While lymphocyte subsets in splenectomized beta-thalassemia/Hb E patients showed an abnormal distribution, T-cell activation in these patients was not different from the activation seen in normal subjects. This implies that thalassemia patients, during the steady state of disease, appear to have normal T-lymphocyte function with only moderate abnormalities of T- and B-lymphocyte subsets.
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PMID:Lymphocyte subsets and specific T-cell immune response in thalassemia. 1067 38

Regular blood transfusions for patients with thalassemia have improved their overall survival although these transfusions carry a definite risk of the transmission of certain viruses. Infection with hepatitis B virus (HBV), hepatitis C virus (HCV), cytomegalovirus (CMV) and human immunodeficiency virus (HIV) leads to complications which contribute to the morbidity and mortality of patients with thalassemia. We analyzed the blood samples taken from 85 transfusion dependent thalassemics receiving treatment at the day care center in Hospital Universiti Kebangsaan Malaysia and found that the seroprevalence rates for HBV, HCV and CMV were 2.4%, 22.4% and 91.8% respectively. None of the patients tested positive for HIV. Those positive for HBV and HCV will require further tests and treatment if chronic hepatitis is confirmed.
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PMID:Seroprevalence of hepatitis B, hepatitis C, CMV and HIV in multiply transfused thalassemia patients: results from a thalassemia day care center in Malaysia. 1077 66

A 19-year-old splenectomized, multitransfused female patient with beta-thalassaemia major developed primary meningitis due to P. putida. Her blood cultures were negative. P. putida is an unusual nosocomial organism to cause primary meningitis. Infection due to this organism carries high mortality. However, owing to early diagnosis and energetic treatment this patient survived without any sequelae. A review of serious infections over the last 7 years in patients in our thalassaemia care centre revealed 11 serious infections among our splenectomized patients (n = 46) and none in the non-splenectomized group (n = 106). Surprisingly, all overwhelming infections (23.8% in the splenectomized group) were caused by Gram-negative bacilli like Klebsiella, Pseudomonas, Aeromonas and Campylobacter species. As all our splenectomized patients had prior pneumococcal vaccination and oral penicillin prophylaxis, overwhelming septicaemia due to S. Pneumoniae was successfully prevented, but an increasing incidence of overwhelming sepsis due to Gram-negative bacilli, against which no vaccination or suitable prophylactic antibiotics are available, is now posing a new threat to this vulnerable group of patients.
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PMID:Primary pseudomonas meningitis in an adult, splenectomized, multitransfused thalassaemia major patient. 1084 29

Infection is a major complication and the leading cause of death in thalassemia, especially E-beta thalassemia. The spectrum of infections in E-beta thalassemia include mild and severe infections, therapy-related infections such as Yersinia enterocolitica infection associated with desferrioxamine (DFO) therapy, and transfusion-transmitted disease, as well as unique infections such as with pythiosis. Prospective studies in Thailand indicate that patients with E-beta thalassemia had more frequent episodes of both mild and severe infections. The former included upper respiratory tract infection, acute gastroenteritis, cutaneous abscess, and gingivitis. Severe infections occurred more commonly in patients with splenectomy and included septicemia, pneumonia, biliary tract infection, salmonellosis, and urinary tract infection. Responsible organisms were Escherichia coli (26%), Klebsiella pneumoniae (23%), Salmonella (15%), and Streptococcus pneumoniae (13%). Other organisms included Pseudomonas, Staphylococci, Burkholderia pseudomallei (melioidosis), and Aeromonas. Patients undergoing DFO therapy are at risk for Y. enterocolitica infection which may be localized to mesenteric nodes and tonsils or occur as a generalized form such as septicemia. Recently, we have seen a unique infection so-called vascular pythiosis. Patients usually presented with clinical features of vascular occlusion of lower limbs from ascending arteritis and thrombosis. The causative organism, Pythium insidiosum, is fungus-like, in the kingdom Stramenopila, and in the class Oomycetes. The mortality rate is high and the only effective treatment has been early amputation or possibly immunotherapy. The predisposing factors of infections in thalassemia include splenectomy, iron overload, anemia, and granulocyte dysfunctions. General management of infections in thalassemia consist of prevention, i.e., immunization with pneumococcal and hepatitis vaccines, oral penicillins especially in patients with splenectomy, removal of predisposing factors such as gallstones, iron overload, and appropriate antibiotics.
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PMID:Infections in E-beta thalassemia. 1113 34

Infection is the main factor of morbidity and mortality in children with sickle cell disease (SCD). The objective of this study is to determine it's epidemiologic outline in senegalese children and adolescents with SCD. We retrospectively studied infection data in all the charts of a cohort of 323 patients with SCD (307 SS, 13 SC and 3 s beta + thalassemia) followed at Albert Royer children hospital from january 1991 to december 1997. Serum sampling was systematically made for HIV and antigen HBs serology in all patients we received in the last 3 months (october to december 1997). Patients were aged from 5 months to 22 years (medium age = 8 years). 813 infection episodes were diagnosed, concerning 184 patients (56 per cent). SS patients were more affected (59 per cent) than the others (23 per cent, p = 0.04). ENT and broncho-pulmonary onsets were more frequent but had a generally benign course. Menigitidis, septicemia and osteomyelitis were exclusively diagnosed in SS patients. Their prevalences in this group were respectively: 1.0 per cent, 4.9 per cent and 9.8 per cent. HIV serology was determined in 155 patients, including 41 per cent with blood transfusion antecedents. All tests were negative. HBs antigen was determined in 104 patients and seroprevalence was 7.7 per cent in the whole group and 6.0 per cent in patients with transfusion antecedents and 7.7 per cent for the others. Plasmodium falciparum malaria onset was observed in 9.6 per cent of our patients and there was no case of cerebral malaria. Infection was involved in 9 of the 11 cases of death. Then infection constitute the major problem in children and adolescents with SCD in Dakar. However prevalences of severe onsets are comparable to data in Europe despite our poor follow up conditions. Senegal haplotype may lead to a good tolerance of SCD. Negative HIV serology and low HBs antigen seroprevalence in transfused patients are attributed to a relatively low level of HIV prevalence in the general population and a good transfusion security in Senegal.
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PMID:[Infections in Senegalese children and adolescents with sickle cell anemia: epidemiological aspects]. 1466 92

Infections are major complications and constitute the second most common cause of mortality and a main cause of morbidity in patients with thalassaemia, a group of genetic disorders of haemoglobin synthesis characterised by a disturbance of globin chain production. Thalassaemias are among the most common genetic disorders in the world. Predisposing factors for infections in thalassaemic patients include severe anaemia, iron overload, splenectomy, and a range of immune abnormalities. Major causative organisms of bacterial infections in thalassaemic patients are Klebsiella spp in Asia and Yersinia enterocolitica in western countries. Transfusion-associated viral infections (especially hepatitis C) can lead to liver cirrhosis and hepatocellular carcinoma. A unique and challenging infection detected in Asian patients is pythiosis, caused by a fungus-like organism, the mortality rate of which is very high. Because the prognosis for thalassaemia has much improved, with many patients surviving to the fifth decade of life in developed countries, it is mandatory to reduce mortality by recognising and presumptively treating infections in these patients as quickly as possible.
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PMID:Infections and thalassaemia. 1655 47


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