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)

Hemoglobin fractions were studied in 80 patients suffering from nephroblastoma (Wilms' tumor). 10 out of 80 children had an elevated fetal hemoglobin value, higher than 2.5%, but as there was no other evidence for a thalassemia, we could not refer these patients to delta beta-thalassemia heterozygotes. An electrophoretic study of hemolyzates showed that 4 children had a uniform "quickly-proceeding" anomalous hemoglobin fraction localized in front of HbA2 which decreased in time. In one case, this anomaly was discovered in propositus and also in his father and paternal grandmother. A child suffering from unilateral sporadic Wilms' tumor and his mother had a Negro type hereditary persistence of fetal hemoglobin (HPHF). This complex of Wilms' tumor and HPHF is described for the first time. HPHF and nephroblastoma complex as a possible variant of intersticial deletion of the short arm of chromosome 11 is discussed. The diagnostic value of the study of hemoglobin fractions and the activity of enzymes (catalase, LDH-A), whose genes are localized on the short arm of chromosome 11, are also discussed. It would be useful for genetic counselling to select a group of children with high risk for nephroblastoma.
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PMID:[Changes in the hemoglobin fractions of nephroblastoma patients]. 620 Mar 83

Since there was no position for a full-time pediatric hematologist, Dr. Wolff practiced general pediatrics for 10 years while he volunteered as director of the hematology clinic at the Babies Hospital. He was appointed full-time Director of Pediatric Hematology in 1959. His early clinical studies were concerned with treatment of erythroblastosis fetalis and use of frequent transfusions and desferroxamine in children with thalassemia. The combined tumor clinic at the Babies Hospital, established in 1952, was one of the first to use the multidisciplinary approach to treatment of the child with cancer. In 1957, the Children's Leukemia Group A, later called the Children's Cancer Study Group, was established by Dr. Joseph Burchenal. Dr. Wolff was one of the first members. This group led to the establishment of various national intergroup committees for clinical study of cancers in children. In 1954, Farber began to use dactinomycin for treatment of Wilms' tumor. At first this drug was used only for treatment of metastatic tumors, but later it was also used to prevent metastases. Subsequently, other childhood tumors were found to be amenable to chemotherapy.
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PMID:Dr. James A. Wolff. III. First pediatric hematologist at Babies Hospital. 639 33

The chromosome-16 and the X-chromosome forms of alpha-thalassemia--ATR-16 and ATR-X--exemplify 2 important causes of syndromal mental retardation. ATR-16 is a contiguous gene syndrome which arises from loss of DNA from the tip of chromosome 16p13.3 by truncation, interstitial deletion, or unbalanced translocation. It provided the first example of a chromosome translocation that could be detected by molecular analysis but not conventional cytogenetics. It also provided the first example of a telomeric truncation giving rise to a complex genetic syndrome. In contrast ATR-X appears to be due to mutations in a trans-acting factor that regulates gene expression. Mutations in transcription factors have recently been identified in a number of genetic diseases (for example, Denys-Drash syndrome, WT1 [19]; pituitary dwarfism, PIT1 [16]; Rubinstein-Taybi syndrome, CBP [20]. Not only is this mechanism proving to be an important cause of complex syndromes but it is providing new perspectives on certain developmental pathways. XH2 may not be a classical transcription factor but it is certainly involved in the regulation of gene expression, exerting its effects on several different genes. It seems likely that other mutations in this class of regulatory proteins will be found in patients with complex disorders including mental retardation. In broader terms the 2 mechanisms described here may prove to be responsible for a significant proportion of mental retardation. However, without a feature such as alpha-thalassemia to pinpoint the area of genome or pathways involved it may prove difficult to identify other, similarly affected genes underlying other forms of mental retardation. As the human genome project and rapid genome analysis evolve this problem should become less of an obstacle. In the meantime, it is very worthwhile to continue looking for unusual clinical associations that may point to critical genes underlying human genetic disorders.
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PMID:The alpha-thalassemia/mental retardation syndromes. 860 26

From March 1991 through 31st December 2007, 2042 patients underwent stem cell transplantation at the Hematology-Oncology and Stem Cell Transplantation Research Center, affiliated to Tehran University of Medical Sciences. These transplantations included 1405 allogeneic stem cell transplantation, 624 autologous stem cell transplantation, and 13 syngeneic stem cell transplantation. Stem cell transplantation was performed for various diseases including acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, thalassemia major, sickle cell thalassemia, sickle cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combine immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. We had 105 cellular therapies for postmyocardial infarction, multiple sclerosis, cirrhosis, head of femur necrosis, and renal cell carcinoma. About 30 patients were retransplanted in this center. About 74.9% of the patients (1530 of 2042) remained alive between one to 168 months after stem cell transplantation. Nearly 25.1% (512 of 2042) of our patients died after stem cell transplantation. The causes of deaths were relapse, infections, hemorrhagic cystitis, graft versus host disease, and others.
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PMID:Stem cell transplantation; Iranian experience. 1911 Oct 33