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

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.
 ...
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

To date the true prevalence of hepatitis C virus (HCV) mixed-genotype infections has not been established mainly because currently available methods are not suitable for the detection of mixed genotypes in a viral population. A novel semiautomated genotyping method, primer-specific and mispair extension analysis (S-PSMEA), which is more reliable than other genotyping assays was developed for detection of HCV mixed-genotype infections. A genotype present at levels as low as 0.8% in a defined mix of HCV genotypes was detected, showing a 20-fold increase in sensitivity over that of direct DNA sequencing. A total of 434 HCV isolates were genotyped and analyzed for a comparative study of the accuracy between S-PSMEA and four current genotyping methods. The results showed that viruses in approximately 40% of the samples from this group determined to be infected with mixed genotypes by S-PSMEA were undetected by direct DNA sequencing due to its low sensitivity. Type-specific PCR, line probe assay, and restriction fragment length polymorphism analysis performed poorly, being able to identify only 38.5, 16.1, and 15.4% of mixed-genotype infections, respectively, that were detected by direct DNA sequencing. The prevalence of mixed-genotype infections detected by S-PSMEA was 7.9% (12 of 152 donors) among HCV-infected blood donors, 14.3% (15 of 105) among patients with chronic hepatitis C, and 17.1% (6 of 36) among thalassemia patients who had received multiple transfusions. The data lead us to conclude that HCV mixed-genotype infections are more common than previously estimated and that S-PSMEA may be the method of choice when detection of genotypes present at low levels in mixed-genotype infections is required due to its higher level of sensitivity.
 ...
PMID:Comparison and application of a novel genotyping method, semiautomated primer-specific and mispair extension analysis, and four other genotyping assays for detection of hepatitis C virus mixed-genotype infections. 1092 31

Early and regular blood transfusion therapy in patients with homozygous beta-thalassaemia decreases the complications of severe anaemia and prolongs survival. In the long term, however, the beneficial effects of transfusions are limited by the organ damage resulting from iron overload, a consequence of the body's limited capacity to excrete iron, and by the complications of infection with blood-borne agents. Transfusion regimens for beta-thalassaemia have changed substantially during the past four decades. In current protocols, pre-transfusion haemoglobin concentration should not exceed 95 g/l. This allows adequate control of anaemia, with a relatively low rate of iron accumulation. Although iron chelation therapy has successfully improved survival free from cardiac disease, thalassaemic patients continuously present new clinical challenges. In fact, the vast majority of them suffer from post-transfusion chronic hepatitis C, which is expected to significantly contribute to morbidity in the forthcoming years. Furthermore, recent studies demonstrated that thalassaemics are at high risk of acquiring several blood-borne viruses. The potential role of these multiple infections in inducing clinical disease is still uncertain, and needs to be thoroughly clarified in future surveys.
 ...
PMID:Benefits and complications of regular blood transfusion in patients with beta-thalassaemia major. 1111 Dec 30

Primary iron overload may be relatively common in African Americans, but its cause is incompletely understood. Thus, we evaluated genotype and phenotype characteristics of unselected African American index patients with primary iron overload who reside in central Alabama. All had hepatic iron concentration > or =30 micromol/g dry wt or > or =2.0 g of iron mobilized by phlebotomy to achieve iron depletion. Genotype analyses were performed in African American control subjects from the same region. There were 23 patients (19 men, 4 women); mean age at diagnosis was 52 +/- 12 years (1 SD) (range 32-69 years). Nine (39.1%) reported that they consumed > or =45 g of ethanol daily; five had chronic hepatitis C. Eight had some form of hemoglobinopathy or thalassemia. Mean serum transferrin saturation was 56 +/- 28% (range 15-100%). The geometric mean serum ferritin at diagnosis was 1076 ng/mL [95% confidence interval 297-3473 ng/mL]. Increased stainable liver iron was observed in hepatocytes only in 4 patients, in macrophages only in 8 patients, and in hepatocytes and macrophages in 8 patients. The mean quantity of iron mobilized by phlebotomy (corrected for iron absorbed during treatment) was 5.3 +/- 2.0 g (range 4.0-8.4 g). Iron removed by phlebotomy was greater in patients with hemoglobinopathy or thalassemia than in those without these forms of anemia (6.6 +/- 1.3 g vs 3.9 +/- 1.6 g, respectively; P = 0.0144). Daily consumption of > or =45 g of ethanol or chronic hepatitis C was not associated with an increased or decreased amount of phlebotomy-mobilized iron, on the average. The percentage of index patients positive for HFE C282Y was greater than that of controls (P = 0.0058). The respective percentages of phenotype positivity for HFE H63D, D6S105(8), and HLA-A*03 were similar in patients and controls. HFE S65C, I105T, and G93R were not detected in index or control subjects. Two of 13 patients were heterozygous for the ferroportin allele nt 744 G-->T (Q248H), although the phenotype frequency of this allele was similar in patients and 39 controls. Synonymous ferroportin alleles were also detected in some patients. The ceruloplasmin mutation nt 1099C-->T (exon 6; Arg367Cys) was detected in 1 of 2 patients tested. Abnormal alleles of beta-2 microglobulin, Nramp2, TFR2, hepcidin, or IRP2 alleles were not detected in either of the 2 patients so tested. We conclude that primary iron overload in African Americans is not the result of the mutation of a single gene. HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients.
 ...
PMID:Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. 1463 44

Total cholesterol, triglycerides (TG), LDL-cholesterol, HDL-cholesterol, alpha-lipoprotein (LP) (HDL-LP), pre-beta-LP (VLDL-LP) and beta-lipoprotein (LDL-LP) were measured in the blood of 104 patients with major and intermedia form of beta-thalassaemia and 112 control subjects, mean age +/- SD 10.2 +/- 3.5 and 9.1 +/- 3.8 years, respectively. Cholesterol, LDL- and HDL-cholesterol were significantly decreased and TG was significantly increased in the patients compared to the control subjects. TG values in male patients were significantly higher than in male control subjects, but no differences were found in females. Patients with major and intermedia forms of beta-thalassaemia and chronic hepatitis C have significantly lower values of cholesterol and beta-LP and higher values of HDL-cholesterol than patients without hepatitis C. An increase of HDL-cholesterol and alpha-LP was found in patients with diabetes mellitus or impaired glucose tolerance (IGT) compared to patients without IGT. In the thalassaemic patients there was an increase of TG and pre-beta-LP and a decrease of HDL-cholesterol and alpha-LP with increasing ferritin values. There was a positive correlation of the patients' age with TG and pre-beta-LP whereas no such correlation was found in the control subjects. It appears, therefore, that many factors as iron overload, liver injury, hormonal disturbances and aging affects lipids and LP pattern in patients with major and intermedia form of beta-thalassaemia.
 ...
PMID:beta-Thalassaemia and factors affecting the metabolism of lipids and lipoproteins. 1465 51

Thalassaemia patients with genotype 1 or 4 chronic hepatitis C virus (HCV) infection were randomised to receive peginterferon alpha-2a 180 mg/week ribavirin for 48 weeks. Primary efficacy variable was sustained viral response (SVR) at 72 weeks. Thirty-two patients were evaluated; 20 enrolled. Baseline characteristics were comparable. SVR occurred in four of 12 and five of eight patients in the monotherapy and combination groups (30% and 62.5%; P=0.19), respectively. Undetectable RNA at 12 weeks and age <18 years were associated with improved SVR (P<0.05). Transfusion requirements rose by 34% in the combination arm (P=0.08). Peginterferon/ribavirin was effective in thalassaemics with HCV and moderate iron overload.
 ...
PMID:Efficacy and tolerability of peginterferon alpha-2a with or without ribavirin in thalassaemia major patients with chronic hepatitis C virus infection. 1609 81

We assessed the effectiveness of interferon (IFN) monotherapy in thalassemic or hemodialysis patients with chronic hepatitis C viral (HCV) infection. Ten thalassemic and four hemodialysis patients were included in the study. Chronic HCV was confirmed with both serum HCV-RNA and liver histopathology. IFN alpha-2a was administered three times a week for 24-48 weeks, at a dose of 5 MU/m2 (maximum 6 million units). Sustained response was defined as negative HCV-RNA at least 24 weeks after termination of the treatment. All patients completed the study. Eight of 10 thalassemic (80%) and one of four hemodialysis patients (25%) showed a sustained response. IFN monotherapy proved to be an effective treatment, especially in thalassemic patients with chronic HCV. IFN monotherapy seems reasonable for patients with thalassemia and chronic hepatitis C virus in whom ribavirin cannot be used.
 ...
PMID:Interferon alpha monotherapy for chronic hepatitis C viral infection in thalassemics and hemodialysis patients. 1643 96

The Thalassaemia International Federation (TIF) was established in 1986. The Federation has two important objectives: 1. To promote the continued control of thalassaemia major in countries with existing policies aimed at control, and 2. To support the establishment of policies of control in every affected country of the world. Over the years TIF has: - Held workshops and seminars attended by over 7,000 from 35 countries - Organized 11 International Conferences attended by 5,150 from 62 countries - Organized field trips/delegation visits in 42 countries - Prepared, published and distributed 70,000 books to 96 countries - Trained physicians and scientists from medical centres in the UK, US, Italy, Greece and Cyprus - Initiated and co-ordinated projects and clinical studies overseen by international experts in over 50 countries. - Established a vast network of scientific collaborators from every corner of the world, and - Has promoted close and productive collaborations with major health organizations. One of the most important projects that TIF has conducted was a multi-centre study on endocrine complications in the different affected regions of the world. It is hopeful that through the analysis of data already obtained and expected, other projects related to blood transfusion therapy, iron chelation and chronic hepatitis could be organized.
 ...
PMID:The role of the Thalassaemia International Federation in health professionals' education. 1646 3

Prevalence and influence on liver disease of HCV and HGV infections, and HCV genotypes were studied in 28 HCV-Ab positive multitransfused thalassaemia patients with persistently normal ALT levels (group A) matched by sex and age with 28 patients with increased ALT levels (group B). Laboratory and virologic tests (all patients), liver biopsy (28 patients) and LIC by SQUID (30 patients) were performed. In group A, HCV-RNA was positive in 39%, genotype 2a was detected in 91%. In Group B, HCV-RNA was positive in 89%, prevalence of genotype 1b and 2a was 52% and 48% respectively; compared with group A, they had significantly increased values of gammaGT, AF, BA, TP, IgG, IgA, LIC (group B: 2,142 -/+ 1,524 microg/g liver; group A: 1,084 -/+ 610 microg/g liver). Overall prevalence of HGV-RNA was low (12.5%) and not significantly different between groups. Liver biopsies revealed no cirrhosis and severe fibrosis was found in 3 HCV viremic patients in group B. In 14 viremic patients examined both for LIC and liver histology, mild fibrosis was observed in 71%, in which iron overload was below 5 times the normal value. In conclusion, in patients with normal ALT levels, active HCV infection must be excluded by evaluation of HCV-RNA. Liver biopsy is indicated in HCV viremic patients, independent of ALT levels; in non-viremic patients, increased ALT levels may be due to iron overload and LIC measurement is indicated. Our data emphasise the crucial role of chelation therapy to maintain low LIC levels in order to prevent progression of fibrosis to cirrhosis in patients with HCV chronic hepatitis.
 ...
PMID:HCV and HGV infection, iron overload and liver disease in multitransfused patients with thalassaemia and persistently normal or abnormal transaminase levels. 1646 7

We describe a patient with HbE-beta thalassaemia and chronic hepatitis C virus infection (genotype 1a) who was treated successfully with peginterferon alfa-2b and ribavirin, following failure to respond to standard interferon and ribavirin therapy. She had sustained virological response for nearly 24 months after completing peginterferon alfa-2b and ribavirin therapy. Transfusion requirements were significantly increased during combination therapy due to ribavirin-induced haemolysis. The adverse effects of interferon were well tolerated. Combination therapy with peginterferon alfa-2b and ribavirin maybe a feasible treatment option for a subset of thalassaemia/HCV infected non-responders to standard interferon-based therapy.
 ...
PMID:Peginterferon alfa-2b and ribavirin in thalassaemia/chronic hepatitis C virus-co-infected non-responder to standard interferon-based. 1657 Jul 22


<< Previous 1 2 3 4 5 Next >>