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)

Hepatocellular carcinoma (HCC) is a complication of cirrhosis. Due to blood transfusions, patients with beta-thalassemia (thal) are often infected with either hepatitis C virus (HCV) or hepatitis B virus (HBV). In the past, many patients did not survive long enough to develop HCC. The recent improvements in prognosis have helped in the diagnosis of HCC that has developed. The aim of this study was to evaluate HCC incidence in beta-thal. We performed liver ultrasound (US) on all adults without a previous diagnosis of HCC. Risk factors (iron overload, HCV infection, HBV infection, cirrhosis) were evaluated. One hundred and eight thalassemia patients have been evaluated; of whom three were excluded (two patients as they were under the age of 18 years and one patient because he had a previous history of HCC). Seventy-two patients [31 had thalassemia major (TM), 41 had thalassemia intermedia (TI)] with risk factors (iron overload in 72, HCV infection in 46, HBV infection in two, cirrhosis in 10) and 33 (four with TM and 29 with TI) without risk factors underwent liver US. Overall, two patients were found to have a newly developed HCC. Of these two patients, one was treated with surgery and the other with percutaneous radiofrequency. Further follow-up did not show any evidence of recurrence after 23 and 15 months, respectively. Ultrasound screening can allow early detection and treatment of HCC in thalassemia patients.
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PMID:A prospective study of hepatocellular carcinoma incidence in thalassemia. 1654 Apr 24

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

Pulmonary hypertension is a common complication of beta-thalassemia major. We report a case of successful treatment of pulmonary hypertension in a patient with beta-thalassemia major and review the literature on pulmonary hypertension and beta-thalassemia major. A 28-year-old man with beta-thalassemia major, splenectomy, hepatitis C, and hemosiderosis who presented with increasing dyspnea on exertion was diagnosed with pulmonary hypertension. After receiving continuous epoprostenol infusion and desferoxamine, his functional capacity and hemodynamic status improved. To our knowledge, this is the first case of pulmonary hypertension associated with beta-thalassemia treated with continuous epoprostenol infusion and desferoxamine. Epoprostenol, beneficial in the treatment of other types of pulmonary hypertension, may ameliorate the morbidity and mortality of pulmonary hypertension associated with thalassemia.
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PMID:Pulmonary hypertension and beta-thalassemia major: report of a case, its treatment, and a review of the literature. 1668 Jul 45

To assess the effects of liver iron overload and fibrosis after treatment with a chelating agent in hepatitis C virus (HCV)-infected thalassemia, from April 1999 to July 2004, 45 patients with thalassemia major (age range 9-33 years, mean 19.3) received daily deferiprone (L1) for 23-60 months (75 mg/kg). The patients were divided into two groups on the basis of their hepatitis status (27 with, 18 without). Their serum was analyzed for alanine aminotransferase (GPT), aspartate aminotransferase (GOT), bilirubin (total/direct), r-glutamyl transpeptidase (r-GT), alkaline phosphatase (Alk-P), and ferritin. Liver iron overload and fibrosis were defined by a senior pathologist. No significant differences were demonstrated in serum levels of GPT, GOT, bilirubin, r-GT, Alk-P or ferritin; comparison was made for each group before and after L1 treatment. Iron scores were 2.3 +/- 0.9 and 2.8 +/- 0.9 for the hepatitis C negative and positive groups, respectively (p = 0.07), with liver fibrosis scores of 1.0 +/- 0.5 and 0.4 +/- 0.52 (p = 0.56). The two scores were not higher for the positive group. There was no evidence of: 1) greater iron overload and fibrosis in the HCV-infected thalassemic patients; 2) L1 inducing progressive hepatic fibrosis or worsening iron overload in HCV-infected thalassemic patients after long-term therapy; 3) further damage to liver cells associated with L1 treatment.
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PMID:Effect of deferiprone on liver iron overload and fibrosis in hepatitis-C-virus-infected thalassemia. 1679 45

Deferiprone (L1) is an orally active iron-chelation agent that is being evaluated as a treatment for iron overload in thalassemia major. Although some reports have concluded that LI may exacerbate hepatic fibrosis and the deterioration of liver function in thalassemia patients, other studies have reported no detrimental effects. In view of these serious concerns regarding the hepatic toxicity of LI, a Taiwanese group of beta-thalassemia (thal) patients with the longest known duration of LI therapy and who had provided liver biopsies, were enrolled in this study. From April 1999 to July 2004, the 17 enrolled thalassemia major patients had been on L1 therapy for as long as 19 to 60 months. Two liver biopsies from each of the 17 patients were received at the China Medical University Hospital, Taichung, Taiwan. Serum alanine aminotransferase (ALT), viral serological studies for hepatitis B and hepatitis C, iron scores and fibrosis scores were available at the beginning of the study and at the time of the second biopsy. Overall, the 17 patients received L1 therapy continuously for a mean period of 3.3 years. With the exception of two patients, fibrosis scores decreased in all patients after LI therapy. Three patients had increased iron scores after therapy of L1 and 11 patients had increased ALT levels; increased ALT levels occurred more frequently in hepatitis C positive patients. In this study, most thalassemia major patients had no progression of hepatic fibrosis or increased liver iron stores during long-term LI therapy.
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PMID:Liver fibrosis and iron levels during long-term deferiprone treatment of thalassemia major patients. 1679 46

Recently we identified hepatitis C virus (HCV) genotype 4 as the principle genotype among Lebanese thalassaemics. In an attempt to confirm the predominance of genotype 4 in Lebanon and perhaps in the Middle East, genotyping was attempted on 142 HCV-infected Lebanese patients from five different hospitals in the country. These included 38 HCV-positive patients with symptomatic liver disease who were referred to gastroenterologists and 104 HCV-positive patients with no symptoms of liver disease: 27 patients with thalassaemia, 30 patients on haemodialysis, 32 multi-transfused and 15 intravenous drug users. HCV genotyping was performed on PCR HCV RNA-positive samples using a commercial line probe assay (LiPA; Innogenetics, Ghent, Belgium). HCV genotype 4 is found to be the predominant genotype among HCV-infected Lebanese patients (ranging from 34.2% to 53.3%) followed by 1a (ranging from 12.5% to 43.3%) and 1b (ranging from 8.0% to 34.4%). In patients with symptomatic liver disease, however, genotype 4 (34.2%) was preceded by genotype 1a (39.5%). The predominance of HCV genotype 4 in our population (45.7%) confirms the predominance of HCV genotype 4 in Lebanon and most of the Arab countries in the Middle East but contrasts with data reported from non-Arab Middle Eastern Countries as can be seen from the literature review. Implications of genotyping for clinical outcome of HCV infection, response to treatment as well as for vaccine development are discussed.
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PMID:Genotypes of hepatitis C virus (HCV) among positive Lebanese patients: comparison of data with that from other Middle Eastern countries. 1684 24

Sickle cell intrahepatic cholestasis (SCIC) is a rare complication of sickle cell anemia, characterized by marked hyperbilirubinemia and acute hepatic failure with an often fatal course. However, the few reported adult cases that were treated with exchange transfusion had a favorable outcome. We herein describe a 48-year-old African-American man with hemoglobin S/B thalassemia and previously treated hepatitis C with compensated cirrhosis, who presented with a total bilirubin of 59.7 mg/dL and direct bilirubin of 43.6 mg/dL in the absence of choledocholithiasis. Despite an exchange transfusion and aggressive packed red blood cell transfusions, which successfully decreased the hemoglobin S levels to <15%, he perished from progressive hepatic and renal failure. Autopsy demonstrated extensive intrahepatocellular and intracanalicular cholestasis in a background of cirrhosis. Our case suggests that poor prognostic factors for adult SCIC patients treated with exchange transfusion may include older age and underlying hepatic disease.
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PMID:Case of fatal sickle cell intrahepatic cholestasis despite use of exchange transfusion in an African-American patient. 1689 93

The seroprevalence of hepatitis C virus (HCV) specific antibodies and HCV genotypes distribution were studied among 559 Iraqi children with thalassaemia in receipt of repeated blood transfusions. HCV-specific antibodies were detected in 376 (67.3%) serum samples using third-generation enzyme immunoassay and confirmatory immunoblot assays. Of 78 randomly selected sera, 48 (61.5%) were HCV-RNA positive. HCV genotypes 1a, 1b, 4 and mixed 1b and 4 were demonstrated in 13 (27.1%), 11 (22.9%), 17 (35.4%) and 7 (14.6%) sera respectively. Strict measures for the controlling the spread of HCV are needed by introducing advanced techniques for blood donor screening.
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PMID:Seroprevalence of hepatitis C virus specific antibodies among Iraqi children with thalassaemia. 1703 39

Along with hepatitis B virus (HBV) and human immunodeficiency virus (HIV), Hepatitis C virus (HCV) is emerging as a major transfusion hazard. 22 cases of haemophilia (A 19, B 3) and 20 cases of thalassaemia (2 16, E(2) 4) constituted the study group. Patients tested for anti HCV (using third generation ELISA), HBsAg and antibodies to HIV I and II. Prevalence of anti HCV was 54.5% in haemophilics and 5% in thalassaemics. HBsAg was detected in 9.09% haemophilics and 5% thalassaemics. No anti HIV was detected in this cohort. Anti HCV seropositivity in haemophilics has increased compare to previous studies.
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PMID:Prevalence of anti HCV, HBsAg and HIV antibodies in high risk recipients of blood and blood products. 1719 61

Hepatitis C virus (HCV) genotypes, multiple genotypes infection and HCV seroprevalence were investigated among 98 thalassemia patients and 76 haemophiliacs in Markazi province, Iran. HCV antibody was detected in 5 (5.1%) of the first group and 33 (43.4%) of the latter. Risk factors associated with anti-HCV antibody were also determined. Anti-HCV positivity in thalassemiacs were related to the number of blood transfusion units, splenectomy and duration of thalassemia. Analysis of risk factors in haemophiliacs revealed that seropositivity was significantly associated with duration of transfusion (P =0.009) and severity of disease (P = 0.000). The prevalence of HCV antibody in thalassemia subjects dropped from 8.1% to 0% after implementation of anti-HCV screening (1996). It was found that higher prevalence of HCV antibody in haemophiliacs (43.4%) compared with thalassemia patients (5.1%) correlated with clotting factor concentrates. Of the 34 seropositive haemophilia patients, HCV RNA was detected in 23 (67.7%). HCV genotype distribution was one in 50%, three in 18.2%, two in 4.54% and mixed in 27.3% (1 + 2 in 9.1%, 1 + 3 in 4.54%, 1 + 4 in 9.2% and 2 + 3a in 4.54%) cases. Among the five anti-HCV-positive thalassemiacs, two (40%) were positive for HCV RNA and one sample was found to be subtype 3a. This study confirms that multitransfused patients in Markazi province had similar genotype distribution as those previously reported form some other regions of Iran. Considering the possibilities of HCV mixed genotype among patients with haemophilia and thalassemia, accuracy and precision should be highly concerned in the detection of genotypes and their subsequent treatment.
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PMID:Hepatitis C virus genotypes among patients with thalassemia and inherited bleeding disorders in Markazi province, Iran. 1728 68


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