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)

A maternal knowledge, attitudes and practice (KAP) study concerning the nature and prevention of thalassemia was carried out at the Yangon Children's Hospital in Myanmar. The KAP information was collected using a pretested schedule. Only 18 to 28% of the mothers knew at least one of the statements: thalassemia is a genetic disorder; both parents of thalassemic children carry abnormal genes; there is a 25% chance of recurrence in each subsequent pregnancy. Eighty-two per cent of the respondents decided not to have a further pregnancy for fear of recurrence and of these 62% were currently practising contraception. Oral contraception was the most commonly used method (56%). The median scores as well as the percent responses in favor of the three attitude scales relating to limiting thalassemic children, prenatal diagnosis and termination of pregnancy were high. Although there is a need to increase the community awareness of thalassemia in Myanmar, there is a possibility that prenatal diagnosis and pregnancy termination will be accepted for the prevention of thalassemia.
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PMID:Thalassemia in the outpatient department of the Yangon Children's Hospital in Myanmar: knowledge, attitudes and practice in relation to thalassemia. 143 80

Bone marrow transplantation (BMT) was mainly used for the treatment of immunological, hematological and oncological diseases. Genetic diseases can also be treated by transplantation of normal histocompatible allogeneic bone marrow. This type of marrow transplantation is used for the treatment of inborn errors whose clinical expression is restricted to lymphoid or hematopoietic cells. The therapeutic role of bone marrow transplantation in the treatment of generalized genetic diseases is under investigation. Genetic disorders that can be cured include congenital immune deficiencies, infantile malignant osteopetrosis, thalassemia, infantile agranulocytosis, chronic granulomatous disease, lysosomal storage diseases and others. The use of autologous bone marrow after the insertion of a normal gene (gene therapy) in vitro circumvents the need for a histocompatible donor.
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PMID:[Correction of fatal genetic diseases using bone marrow transplantation. 1]. 205 64

Thalassemia is an inherited genetic disorder of hemoglobin synthesis characterized by a reduction of either alpha or beta chains of globin. Typical features of patients with thalassemia are skeletal modifications, particularly in the skull and in the malar bone. This report describes a patient who was originally found to have an oro-facial deformity and subsequently demonstrated clinical and laboratory findings consistent with those recorded for thalassemia intermedia.
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PMID:Thalassemia diagnosed through facial distortion. 311 Mar 25

Recent population genetic studies of the distribution of alpha+-thalassaemia in Melanesia using DNA analysis have provided strong support for the hypothesis that high frequencies of this genetic disorder are the result of natural selection by malaria.
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PMID:Alpha-thalassaemia and the malaria hypothesis. 312 Apr 67

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

Single base substitutions can be detected and localized by a simple and rapid method that involves ribonuclease cleavage of single base mismatches in RNA:DNA heteroduplexes. A 32P-labeled RNA probe complementary to wild-type DNA is synthesized in vitro and annealed to a test DNA containing a single base substitution. The resulting single base mismatch is cleaved by ribonuclease A, and the location of the mismatch is then determined by analyzing the sizes of the cleavage products by gel electrophoresis. Analysis of every type of mismatch in many different sequence contexts indicates that more than 50 percent of all single base substitutions can be detected. The feasibility of this method for localizing base substitutions directly in genomic DNA samples is demonstrated by the detection of single base mutations in DNA obtained from individuals with beta-thalassemia, a genetic disorder in beta-globin gene expression.
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PMID:Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. 407 Oct 43

Marrow transplantation is effective treatment for a number of haematological diseases in patients under the age of 50 who have an HLA-identical sibling donor. It is generally successful when used early in the treatment of aplastic anaemia. It is the only treatment that offers long-term disease-free survival for patients with acute leukaemia who have relapsed at least once, with 10-30 per cent apparent cures. Although still somewhat controversial, it appears also to be the treatment of choice for patients with acute non-lymphoblastic leukaemia in first chemotherapy induced remission and for those with chronic myelogenous leukaemia in the chronic phase since approximately 50-60 per cent of these patients are surviving after marrow transplantation in complete remission, apparently cured. Marrow grafting is the only effective treatment for many patients with inherited immunological-deficiency diseases and certain genetic storage diseases. It is being explored for the therapy of patients with lymphoma, Hodgkin's disease, multiple myeloma, small-cell lung cancer, testicular cancer, ovarian cancer and genetic disorders of haematopoiesis. Cures of congenital Fanconi anaemia, Blackfan-Diamond anaemia, osteopetrosis, and paroxysmal nocturnal haemoglobinuria have been achieved by marrow grafting. Genetic disorders associated with haemolytic anaemia and cyclic neutropenia have been cured by marrow grafting in animals. Target disorders for marrow transplantation in humans are thalassaemia major and sickle cell disease, and, indeed, a first successful transplant for treatment of thalassaemia major has recently been described (Thomas et al, 1982). Marrow transplantation has been limited by the fact that many patients do not have HLA-identical siblings and very few have monozygotic twins. The Seattle team has now explored the use of less well-matched family member donors in more than 80 patients with leukaemia. These donors share one HLA haplotype genetically with the patient and are phenotypically identical at two of the three major HLA loci on the other HLA haplotype (Clift et al, 1979). Overall, the post-transplant survival appears more a reflection of the type and stage of the leukaemia than of the marrow donor. Patients with leukaemia grafted in relapse have a projected survival of 20-30 per cent and those transplanted in remission of 50 per cent. The incidence and severity of GVHD may not be significantly different from that of patients given HLA-identical sibling marrow grafts.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Application of bone marrow transplantation in leukaemia and aplastic anaemia. 635 79

Homozygous beta-thalassemia is a severe hereditary disorder associated with osteopenia. Recently it was suggested that thalassemia minor may be a risk factor for osteoporosis. The purpose of the present study was to investigate this suggestion. Bone mineral status was assessed in 22 premenopausal women and 21 men with beta-thalassemia minor. In vivo neutron activation analysis was applied to measure hand-bone phosphorus (HBP), single-photon absorptiometry to measure forearm bone mineral content (BMC), and dual-energy X-ray absorptiometry to measure spinal bone mineral density (BMD). Comparison of the HBP, BMC, and BMD values with those of sex- and age-matched healthy subjects without the beta-thalassemia trait failed to indicate a statistically significant difference for either sex group. Concerning the biochemical markers of bone metabolism that were studied (serum calcium, phosphate, alkaline phosphatase, osteocalcin, and parathyroid hormone, and 3-h fasting urine calcium-to-urine creatinine ratio) no difference was observed between the study subjects and matched controls. In conclusion, the present study showed that subjects with beta-thalassemia minor are not at risk for osteoporosis.
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PMID:Bone minerals in beta-thalassemia minor. 766 42

alpha-Thalassaemias are probably the most common genetic disorder worldwide. alpha-Thalassaemias are haemolytic anaemias resulting from inherited deficient synthesis of alpha-globin chains. In this paper, the classification and nomenclature of alpha-thalassaemias are developed. Procedures to ensure the laboratory diagnosis are explained. The heterozygous carrier states for these disorders are, in most cases, not associated with any easily discernible change in the haemoglobin pattern, except, sometimes, a reduced MCV in the blood picture. Heterozygotes for alpha-thalassaemia deletions are now detectable by the accurate PCR method. Because of the high prevalence of these disorders in large segments of the world population, alpha-thalassemia and haemoglobinopathies often occur in the same individual. The laboratory features of these interactions and, particularly, the role of alpha-thalassaemia as a potential modulator of sickling haemoglobinopathies are discussed.
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PMID:[Alpha-thalassemia]. 785 31

Desferal, a siderophore of microbial origin is the only drug currently used for clinical treatment of a genetic disorder, thalassemia. By using a combination of HPLC and 31P-NMR, it is demonstrated that the Cu complex of desferal cleaves DNA, the primary site of hydroxyl radical attack being the sugar C1' in the minor groove, which leads to production of 5-methylene furanone. While no C5'-oxidation was observed, a minor process involving C4'-attack accompanies the above cleavage path. The oxidative cleavage of DNA observed with CuDFO may have implications in the emerging applications of desferal as a drug delivery agent and an antimalarial.
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PMID:DNA cleavage by Cu(II)-desferal: identification of C1'-hydroxylation as the initial event for DNA damage. 816 67


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