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)

Early trials of allogeneic bone marrow transplantation (BMT) for homozygous beta-thalassemia and the analyses of results of transplantation in patients less than 16 years old have allowed us to identify three classes of risk based on the following criteria: (a) hepatomegaly, (b) presence of liver fibrosis at histological examination, and (c) quality of chelation treatment given before transplant. Patients with none of these adverse criteria were assigned to Class 1; patients with either one or two adverse criteria comprised Class 2; and patients for whom all three criteria were adverse constituted Class 3. Most patients older than 16 years have disease characteristics that place them in Class 3, with very few falling into Class 2. All patients with a histocompatibility leukocyte antigen (HLA)-identical donor are actually assigned to one of two conditioning regimens on the basis of the class they belong to at the time of BMT and independently of age. For Class 1, Class 2, and Class 3 patients, the probabilities of survival and event-free survival are 95 and 90%, 86 and 82%, and 87 and 63%, respectively. For those patients older than 16 years at the time of transplant, the probabilities of survival and of event-free survival are 78 and 74%, respectively. Allogeneic BMT is currently the only rational therapeutic modality for the eradication of beta-thalassemia.
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PMID:Bone marrow transplantation in thalassemia. 759 68

After successful bone-marrow transplantation (BMT) in thalassaemia, the individual acquires the pattern of globin synthesis of the donor. We call such an individual "ex-thalassaemic after BMT", a term that underscores the cure of the genetic defect but maintenance of residual signs of organ damage due to iron overload and dysfunction acquired during the pretransplant years. We have analysed the extent and fate of tissue iron overload in 151 ex-thalassaemic patients after BMT, according to the risk factors of hepatomegaly, hepatic portal fibrosis, and inadequate chelation therapy. Serum ferritin concentrations decreased and unbound iron binding capacity (UIBC) increased slowly during the years after the transplant. When analysed according to risk group (assigned at the time of the transplant), ferritin and UIBC returned within the normal ranges in only the low-risk group (without hepatomegaly or portal fibrosis, and with adequate chelation pre-BMT). Ferritin and UIBC were still abnormal 7 years after the transplant in the moderate-risk group (those with one or two risk factors) and highly abnormal in the high-risk group (all three risk factors) indicating persistence of, respectively, moderate and severe iron overload at the time of transplant. In ex-thalassaemic patients who were studied before and yearly after the transplant the extent of haemosiderosis, as judged by staining of liver biopsy samples, decreased during the years after transplant. The degree of iron deposition and rate of post-BMT linear growth seem to influence rate of post-BMT decrease in tissue iron overload in different risk groups at the time of BMT.
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PMID:Fate of iron stores in thalassaemia after bone-marrow transplantation. 790 61

Early trials of allogeneic bone marrow transplantation (BMT) for homozygous beta-thalassemia and the analyses of results of transplantation in patients less than 16 years old have allowed us to identify three classes of risk using the criteria of degree of hepatomegaly, the degree of portal fibrosis and the quality of the chelation treatment given before the transplant. Patients for whom all three criteria were adverse constituted class 3, patients with none of the adverse criteria constituted class one and patients with one or various association of the adverse criteria formed Class 2. Most patients older than 16 years have disease characteristics that place them in class 3 with very few in class 2. For all the patients with an HLA identical donor we are actually using two Protocols for BMT to whom the patients are assigned on the base of the class they belong to at the time of BMT and independently on the age of the patient. For class 1, class 2 and for class 3 the probabilities of survival and of event-free-survival are respectively of 98% and 94%, 87% and 84%, 100% and 67%. For those patients that were older than 16 years at the time of the transplant, the probabilities of survival are 82% and the probabilities of event-free survival are 79%. Bone marrow transplantation is a new form of radical treatment of thalassemia in those patients with an HLA identical donor.
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PMID:Bone marrow transplantation for thalassemia. 826 88

Thalassemia is a relatively common hemolytic anemia in Southeast Asia. Alpha and beta thalassemia, hemoglobin (Hb) E, and Hb Constant Spring (CS) are prevalent in Thailand. Different gene combinations lead to over 60 thalassemic syndromes. One hundred and forty-nine thalassemia families were retrospectively studied. They were 4 homozygous beta-thalassemia (beta-thal/ beta-thal), 79 beta-thal/Hb E, 22 Hb H disease, 32 Hb with Hb CS, and 6 AE Bart's disease. The first clinical manifestation and hematologic data including hemoglobin electrophoresis were analysed. Most homozygous beta-thalassemia and beta-thal/Hb E presented with anemia (100% vs 81%), hepatomegaly (40% vs 21%), and splenomegaly (20% vs 27%). In Hb H disease and Hb H with Hb CS, the clinical findings were anemia (74% vs 79%), hepatomegaly (9% vs 8%), splenomegaly (9% vs 13%), jaundice (24% vs 13%), and fever (18% vs 25%). The 317 hematologic data and hemoglobin types of the patients, their parents and relative were also analyzed. These findings can be used as reference values for childhood thalassemia and heterozygous states.
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PMID:Clinical phenotypes and genotypes diagnosis of thalassemia in children. 862 23

Admission records of children with sickle cell anemia (SS), in the two main teaching hospitals in Kuwait, were reviewed for a 1-year period. The haplotypes of 92 beta s chromosomes (from 39 SS, 11 AS, 2 S beta-thalassemia [S beta-thal] and 1 SD individuals) were determined using an allele-specific oligonucleotide (ASO) hybridization technique, while the alpha-globin gene status of 27 SS and 33 AS individuals, i.e. 120 chromosomes, was determined with a combination of polymerase chain reaction and AS techniques. A vasooclusive crisis was the most common (60.0%) cause of hospitalization, followed by infections (20%). Hospital admissions were most common during the hottest month of the year (July). Few complications of the disease were seen among patients on follow-up; however, splenomegaly was present in 24.0%, hepatomegaly in 15.2%, gallstones in 15.2% and aseptic necrosis of the femoral head in 6.1%. Haplotype 31 (Saudi Arabia/India) is the most frequent in this community, being present in 80.4% of the chromosomes tested; Benin haplotype 19 was found in 12.0% and Bantu haplotype 20 in 6.5%. Hb F in the haplotype 31 homozygotes and heterozygotes ranged from 11.4 to 35.1% (mean 22.5 +/- 5.2%). The frequency of alpha-thal determinants in the study was 40.0%, the commonest being the -alpha 3.7-kb deletion (27.5%), the alpha 2 polyadenylation signal (AATAAA-> AATAAG) mutation (10.2%) and the IVS-I 5' end GAGGT-GAGG->GAGG pentanucleotide (5 nt) deletion (3.3%). SS patients with coexistent alpha-thal trait did not have severe recurrent infections and none had gallstones. The high frequencies of the Saudi Arabia/India beta s haplotype and alpha-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi Arabia.
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PMID:Morbidity, beta S haplotype and alpha-globin gene patterns among sickle cell anemia patients in Kuwait. 887 12

We describe a dominantly inherited beta-thalassemia intermedia phenotype observed in a five-generation Portuguese family. Carriers are characterized by moderate anemia, hypochromia, microcytosis, elevated hemoglobin (Hb)A2 and HbF levels, splenomegaly, hepatomegaly, and inclusion bodies in peripheral red blood cells after splenectomy. The molecular basis of this condition is a small deletion within the 5' consensus splicing sequence of the second intron of the beta-globin gene, IVS-II-4,5 (-AG). Reticulocyte RNA studies performed by reverse transcription-polymerase chain reaction (RT-PCR) and primer extension analysis showed three abnormally processed transcripts, which, upon sequencing, were shown to correspond to (1) skipping of exon 2, and (2) activation of two cryptic splice sites (between codons 59/60, and at IVS-II-47). In vitro translation studies of these patients' reticulocyte RNA have shown that at least one of these aberrant mRNA species is translated into an abnormally elongated peptide whose cytotoxic properties could, in part, be causing the atypical dominant mode of inheritance observed in this family. We suggest that this elongated beta chain is unable to combine with an alpha-globin chain to form a functional Hb molecule. Its degradation would, then, exhaust the proteolytic defense mechanism of the erythroid precursors, leading to inefficient proteolysis of the free alpha chains in excess.
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PMID:Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide. 942 26

Early trials of allogenic bone marrow transplantation (BMT) for homozygous beta thalassemia and the analyses of results of transplantation in patients under 17 years of age have allowed us to identify 3 classes of risk using the criteria of degree of hepatomegaly, the degree of portal fibrosis, and the quality of the chelation treatment given before the transplant. Patients for whom all 3 criteria were adverse constituted Class 3, patients with none of the adverse criteria constituted Class 1, and patients with 1 or various associations of 2 of the adverse criteria formed Class 2. Most patients older than 16 years have disease characteristics that place them in Class 3, with very few in Class 2. For all the patients with an HLA identical donor we are actually using 2 protocols to which the patient is assigned on the basis of the Class he belongs to at the time of BMT and independently from the age of the patient. For 104 patients in Class 1 and for 262 patients in Class 2 prepared for the transplant with busulfan 14 mg/kg, cyclophosphamide 200 mg/kg and cyclosporine alone, the probabilities of survival and of event-free survival are 95% and 90% for Class 1 and 87% and 84% for Class 2. For 33 Class 3 patients prepared for the transplant with busulfan 14 mg/kg, cyclophosphamide reduced to 160 mg/kg, cyclosporine, and "short" methotrexate, the probabilities of survival and event-free survival are 89% and 64%. For 57 adult patients (17 to 35 years), who underwent the transplant after preparation with the same protocol used for Class 3, the probabilities of survival and of event-free survival are 70% and 68%, respectively. BMT remains the only form of radical treatment for thalassemia in those patients with an HLA-identical donor.
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PMID:Bone marrow transplantation in thalassemia. The experience of Pesaro. 966 48

This study concerns the effects of several pre-transplant features on outcome for patients with beta thalassemia major who underwent bone marrow transplantation (BMT). Seventy patients with beta thalassemia major underwent bone marrow transplantation during the period 1991-1997 in Shariati Hospital in Tehran, Iran. The survival and rejection curves levelled off at 8 and 18 months after transplantation at 82.6% and 11.4%, respectively. Pre-transplant clinical features (age, serum ferritin, portal fibrosis, hepatomegaly and quality of chelation therapy) were examined for their effects on survival and recurrence of thalassemia in this group of patients who were less than 16 years old. Increasing age, presence of portal fibrosis and increasing serum ferritin were significantly associated with reduced probability of survival (P = 0.0047, P = 0.016 and P = 0.024, respectively). Hepatomegaly and inadequate pre-transplant chelation therapy which were documented as poor prognostic factors in previous studies, were not evaluable in this study. We also showed the benefits of transplanting more than 5.5 x 10(8)/kg cells in this group of patients with no increase in complications.
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PMID:Prognostic factors in bone marrow transplantation for beta thalassemia major: experiences from Iran. 989 19

Bone marrow transplantation in thalassemia represents the only form of radical cure of this disease. Patients younger than 17 years are divided into three classes of risk according to the presence or absence of portal fibrosis, hepatomegaly, and history of adequate chelation treatment. Patients older than 16 years are categorized as adult thalassemics. Survival and event-free survival are 93% and 91% for Class 1, 87% and 83% for Class 2, and 79% and 58% for Class 3, respectively. Adult patient survival is 66% and event-free survival is 62%.
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PMID:Bone marrow transplantation for beta-thalassemia. 1055 61

Beta Thalassemia patients suffer from a high incidence of gallstones as well as systemic complications of iron overload. We performed laparoscopic cholecystectomy in 8 beta thalassemia patients and describe their specific features. Diagnosis was based on patients' clinical presentation and sonography. Trocars were readjusted due to the hepatomegaly. No intraoperative cholangiograms were performed. Follow-up included clinical assessment and abdominal sonography. All procedures were completed laparoscopically. Pigment cirrhosis and fibrosis around the cystic duct were noted in all patients. No biliary injury occurred. Post operatively, 4 patients suffered fluid leakage through the trocar site, treated conservatively. No major cardiopulmonary complications occurred. During a mean follow-up time of 65 months, all patients are symptom free and without evidence of biliary lithiasis. Thalassemia patients are difficult and often high-risk patients. Improvement in anesthesia and monitoring enables better management of these patients. Laparoscopic cholecystectomy should be advised in carefully selected thalassemia patients.
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PMID:Unique features of laparoscopic cholecystectomy in Beta thalassemia patients. 1457 Nov 67


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