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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The frequencies of the hemoglobin E gene (HBB*E) and the beta-thalassemia gene(s) (HBB*T) were determined in 890 healthy adult males from three areas at the Thai-Kampuchean border in Northeastern Thailand. The population of the three study areas differs ethnically: area I is inhabited by Khmer-speaking people, area II has an ethnically mixed population (Tai-Lao, Soui and Khmer), and area III is predominantly Lao. In view of the topographic differences in malaria endemicity in the pre-eradication era, the probands from the three study areas were divided into subgroups "hills" and "plains" according to the location of their home villages. The frequencies of HBB*T were generally low, but the difference between the HBB*E frequencies in the "hills" (0.3295) and "plains" (0.2455) subgroups was highly significant. This is interpreted as environmental effect due to selection by malaria. A "hemoglobin E belt" with HBB*E frequencies between 0.3 and 0.35 extends along the Dangraek mountain chain at the border between Thailand and Kampuchea.
Gene Geogr 1987 Dec
PMID:The hemoglobin E belt at the Thailand-Kampuchea border: ethnic and environmental determinants of hemoglobin E and beta-thalassemia gene frequencies. 315 22

The effects of alpha thalassaemia on sickle cell-beta zero thalassaemia have been studied by comparing haematological and clinical features in four subjects homozygous for alpha thalassaemia 2 (2-gene group), 27 heterozygotes (3-gene group), and 55 with a normal alpha globin gene complement (4-gene group). Alpha thalassaemia was associated with significantly higher haemoglobin levels and lower reticulocyte counts independent of the presence of splenomegaly. Contrary to expectation, alpha thalassaemia was associated with small but significant increases in mean cell volume and mean corpuscular haemoglobin concentration. Splenomegaly at age 5 years and episodes of acute splenic sequestration were significantly more frequent in the 4-gene group. There were no significant differences in painful crises, acute chest syndrome, or other clinical features.
Br J Haematol 1988 Dec
PMID:The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia. 321 94

The standard method for the prenatal diagnosis of the haemoglobinopathies is by restriction enzyme mapping of chorionic villus DNA using Southern blotting and radioactively labelled gene probes. An improvement of the procedure which involves the selective amplification of DNA fragments by the polymerase chain reaction allows one to visualize restriction fragments directly without the use of radioactivity and within 2 d after obtaining the sample. We report here the prenatal diagnosis of two pregnancies at risk for homozygous beta thalassaemia and homozygous sickle cell disease using this novel approach.
Br J Haematol 1988 Dec
PMID:Rapid and non-radioactive prenatal diagnosis of beta thalassaemia and sickle cell disease: application of the polymerase chain reaction (PCR). 321 95

A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. Cytogenetic analysis indicates that the patient is monosomic for 16p13.3----pter and trisomic for 10q26.13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter.
J Med Genet 1988 Dec
PMID:Localisation of human alpha globin to 16p13.3----pter. 323 67

Anti-HIV 1 antibodies were detected in 4 groups of subjects (peoples attending hospitals or medical clinics for anti-HIV investigation, blood donors, women in massage parlours and thalassemia patients) in the north, northeast and central Thailand. A total number of 1,726 blood samples were initially tested with ELISA. The ELISA reactive samples were confirmed by the Western blot analysis. Using ELISA as a screening test, the highest incidence (9.09%) of anti-HIV 1 antibodies was found in thalassemic children (4 of 44). Six (0.72%) and 4 (1.02%) samples in the first, second and third groups had a repeatedly reactive ELISA respectively. The Western blot analysis confirmed that 7 cases (3 thalassemia and 4 subjects in the first group) had antibodies to HIV 1. Two cases with reactive Western blot test were Westerners while the rest were symptomatic and asymptomatic Thais. The HIV infection has spread to thalassemia patients probably via blood transfusion.
Southeast Asian J Trop Med Public Health 1988 Dec
PMID:Epidemiological assessment of anti-HIV 1 antibodies in Thailand. 323 68

Basal and L-dopa-stimulated secretion of growth hormone (GH) was investigated in 10 patients with beta-thalassaemia major. Five patients were prepubertal (chronological age 8 to 12 years), whereas 5 patients had delayed puberty (chronological age 15 to 19 years). Ten normal prepubertal subjects (chronological age 8 to 11 years) served as the control group. Each thalassaemic patient was subjected to two L-dopa tests (0.5 g L-dopa plus 0.7 mg/Kg body weight propranolol, orally): one was performed under conditions of low haemoglobin (Hb) levels (30 days after the last blood transfusion), and the second in the presence of increased Hb concentrations (10 days after the transfusion of packed red blood cells). Before the transfusion of packed red blood cells, basal GH concentrations were significantly higher in the patients with delayed puberty (4.3 +/- 1.6 ng/ml), than in prepubertal thalassaemic (1.8 +/- 0.9 ng/ml, p less than 0.05) and control (1.9 +/- 1.0 ng/ml, p less than 0.02) subjects. In contrast, the pituitary responsiveness to L-dopa, expressed as the relative maximum response for GH (GH delta %), was significantly higher in the latter two groups (8.5-fold, p less than 0.05, and 10.9-fold, p less than 0.02, respectively). The transfusion of packed red blood cells increased significantly Hb concentrations in both groups of thalassaemic patients (prepubertal +27%, p less than 0.05, delayed puberty +33%, p less than 0.025, respectively).(ABSTRACT TRUNCATED AT 250 WORDS)
Exp Clin Endocrinol 1988 Dec
PMID:Effect of increased haemoglobin levels on growth hormone (GH) secretion in beta-thalassaemia major: differences between prepubertal subjects and patients with delayed puberty. 324 42

Doppler shift blood flow velocity-time waveforms in the umbilical arteries (UA), aorta (A), and inferior vena cava (IVC) in eight fetuses with alpha-thalassemia (alpha-thal) hydrops fetalis were described. The UA waveforms in these fetuses with anemia in utero depicted a hyperdynamic circulatory state with a relative increase in acceleration slope, more linear decline from maximum systole to end diastole, and reduced spectral broadening. The aortic waveforms similarly displayed distorted systolic peaks, flow turbulence, and greatly elevated diastolic frequencies. Reversal of end diastolic flow in the IVC also indicated cardiac decompensation in these fetuses. Progressive changes in these waveforms were apparent in two fetuses that had serial evaluation. In another four fetuses in which alpha-thal major was diagnosed in the second trimester by DNA analysis and had Doppler evaluation before termination of pregnancy, consistent changes in the UA, A, and IVC waveforms were not observed. This study confirms the potential usefulness of Doppler spectral waveforms in depicting altered hemodynamic changes in the fetus and in the evaluation of hydrops fetalis. Doppler ultrasound examination can be included as part of the routine workup of hydrops fetalis.
J Ultrasound Med 1987 Dec
PMID:Doppler blood flow velocity waveforms in alpha-thalassemia hydrops fetalis. 332 49

The major barriers to successful bone marrow transplantation (BMT) are graft-versus-host disease (GVHD), infection, rejection and relapse. The combination of methotrexate and cyclosporin is significantly better than either alone in controlling GVHD. Removal of T cells from donor marrow prior to BMT has also decreased GVHD significantly, but a 5-10% rejection rate occurs and an increased relapse risk is being reported by some centres. Cyclosporin is valuable in the treatment of both acute and chronic GVHD. Interstitial pneumonitis due to cytomegalovirus (CMV) is a major cause of mortality. Protection can be provided with CMV hyperimmune globulin and also by the avoidance of blood donors who are CMV antibody positive. Fractionated total body irradiation is associated with decreased toxicity compared to single dose. There is a 75% 4 year disease-free survival following BMT for acute non-lymphoblastic leukemia in first remission, a 50% survival for acute lymphoblastic leukemia in second remission and an 88% survival for chronic myeloid leukemia in chronic phase. BMT for beta-thalassaemia major in young patients without organ dysfunction cures 80% of patients and identical results are achieved for severe aplastic anaemia when BMT is undertaken prior to blood product transfusion.
Aust Paediatr J 1987 Dec
PMID:Recent advances in bone marrow transplantation. 332 11

Most patients homozygous for beta thalassaemia have beta thalassaemia major, a severe illness requiring regular blood transfusions. However, some homozygotes remain well without regular transfusions and are described by the term thalassaemia intermedia. Three factors have now been identified which may result in beta thalassaemia intermedia: the inheritance of mild beta+ thalassaemia mutations, the co-inheritance of alpha thalassaemia and the inheritance of factors enhancing gamma-globin gene expression. In addition other less common genetic interactions also result in thalassaemia intermedia such as the compound heterozygous state for beta and delta beta thalassaemia. These patients need careful clinical follow up, especially since the complications of hypersplenism and iron overload (even in the absence of blood transfusion) can occur.
Blood Rev 1987 Dec
PMID:Thalassaemia intermedia. 333 12

Ten patients with homozygous beta thalassemia, aged from 1 year 7 months to 13 years, underwent bone marrow transplantation from siblings or parents. The first case received 12 mg/kg busulfan, 120 mg/kg cyclophosphamide, and 300 cGy total body irradiation before transplantation; he survives, with a graft, more than 680 days after transplantation. The other nine patients received 16 mg/kg busulfan and 200 mg/kg cyclophosphamide. Two died of transplantation-related complications on days 30 and 55. Seven survive 170 to 580 days after transplantation. Three of the seven surviving patients have durable engraftment (greater than 230 to greater than 550 days) while four patients have autologous hematopoietic recovery. Four of five patients who had less than 50 prior transfusions achieved engraftment. Only one of five patients who had more than 50 prior transfusions achieved engraftment (P less than 0.05). The six-month actuarial survival was 80%; six-month actuarial disease-free survival was 40%. These data demonstrate that bone marrow transplantation may cure thalassemia, but engraftment may be jeopardized among patients who have been heavily transfused or have received marrow from a donor who is not HLA-identical.
Bone Marrow Transplant 1986 Dec
PMID:Marrow transplantation for thalassemia. 333 27


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