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)

Functional human globin messenger RNA was isolated from reticulocytes of two patients with homozygous beta 0-thalassemia, three patients with sickle cell beta 0-thalassemia, and one patient doubly heterozygous for beta 0-thalassemia and hemoglobin Lepore. When incubated in the Krebs type II mouse ascites tumor-cell-free system, messenger RNA from these patients actively directed the synthesis of human beta s and/or alpha- and gamma-globin chains but failed to stimulate the synthesis of any beta A-chains, even though nonthalassemic human globin mRNA preparations consistently stimulated two to four times as much beta A- or beta S-globin chain synthesis as alpha-chain synthesis when incubated in the same system under the same conditions. These results strongly suggest that functional beta A-chain-specific globin mRNA is absent in beta 0-thalassemia.
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PMID:Absence of functional messenger RNA activity for beta globin chain synthesis in beta 0-thalassemia. 80 1

We report a Chinese patient with hemoglobin H (Hb H) disease who developed intrathoracic extramedullary hematopoiesis (EMH) 17 years following splenectomy for a blunt abdominal injury. The patient initially presented with extreme hyperbilirubinemia and multiple intrathoracic tumors. Hb H disease was diagnosed after investigation, and the marked jaundice, which declined gradually after supportive treatment, was attributed to his chronic hemolysis superimposed on an acute hepatitis C virus infection. A biopsy of the intrathoracic tumors revealed an EMH. Intrathoracic EMH, which is usually encountered in patients with beta-thalassemia and hereditary spherocytosis, has never been reported in Hb H disease. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with asymptomatic intrathoracic tumor to avoid unnecessary surgical interventions.
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PMID:Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. 128 91

There were altogether 68 patients suffered from beta-thalassemia in the Veterans General Hospital from 1979 to 1986. However only 18 patients had abnormal roentgenologic findings. They were 7 males and 11 females. Their ages ranged from 8 months to 47 years with an average of 13 years. Clinically beta-thalassemia was divided into 3 types: 1) thalassemia major, 2) thalassemia intermediate, 3) thalassemia minor. The osteoporosis, hepatosplenomegaly, and extramedullary hematopoiesis with pseudo-tumor formation. We concluded that the roentgenologic manifestation of the patient was more in patients with major or intermediate type.
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PMID:[The relationship of clinical severity and roentgenologic findings in beta thalassemia]. 227 71

Diffuse compensatory extramedullary hematopoiesis is well known to involve the spleen and liver in certain hematologic disorders. Hematopoietic tumor masses occasionally form and usually occur paraspinally in the posterior mediastinum. A 31-year-old patient with thalassemia is described with a massive, solitary, intrahepatic hematopoietic tumor and a smaller one in the posterior mediastinum. Review of the literature indicates that presentation as a large, focal liver lesion is unique. The implications and differential diagnosis are discussed.
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PMID:Massive, solitary, intrahepatic, extramedullary hematopoietic tumor in thalassemia. 235 10

The occurrence of a hepatocellular adenoma is described in a young woman with beta-thalassemia and secondary iron overload. This patient had no history of oral contraceptive use, and in fact was hypogonadal as a result of iron deposition in pituitary and gonadal tissue. Although hepatocellular carcinoma frequently occurs in diseases associated with iron overload, this is the first report of a benign liver tumor associated with secondary iron overload.
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PMID:Hepatocellular adenoma in a young woman with beta-thalassemia and secondary iron overload. 626 45

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

Ferritin, iron, total iron binding capacity and transferrin saturation were measured in the serum of 247 patients with microcytic hypochromic anemia. Differentiation into various categories of microcytic hypochromic anemia was based on clinical criteria and on the response to iron treatment. This produced 147 patients with iron deficiency anemia, 35 patients with anemia secondary to infection, 27 patients with anemia due to tumor and 38 patients with thalassemia. Analysis of the iron parameters revealed the reliability of both serum ferritin and transferrin saturation in distinguishing between the various forms of anemia. However, measurement of serum ferritin is slightly more reliable and much less expensive than determination of transferrin saturation.
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PMID:[The value of serum ferritin, serum iron and iron-binding capacity in the differential diagnosis of microcytic hypochromic anemia]. 705 13

An 11-year-old boy was noted to have microcytic anemia, growth retardation, polyclonal hypergammaglobulinemia, and abnormal platelet function. An angiomatous lymphoid hamartoma was removed from the retroperitoneal space. Postoperatively the child exhibited a dramatic growth spurt and complete resolution of the abnormal laboratory measurements. Studies were performed before and after tumor removal to investigate the nature of the associated anemia, growth retardation, and altered hemostasis. There was no evidence of iron deficiency, thalassemia, or an antierythropoietin factor. Prolonged bleeding time and impaired ristocetin-induced platelet aggregation normalized following tumor resection. Serum obtained before surgery inhibited lymphocyte proliferation in mixed lymphocyte culture as well as fibroblast growth in vitro. Detailed study of growth regulatory hormones failed to reveal significant alterations except for significantly reduced somatomedin which normalized after surgery. The factor(s) which inhibit in vitro cellular growth and lower in vivo plasma somatomedin concentration remain unknown.
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PMID:Angiomatous lymphoid hamartoma: inhibitory effects on erythropoiesis, growth, and primary hemostasis. 726 91

Two patients with massive, tumor-simulating extramedullary hematopoiesis are presented. In 1 patient with homozygous beta-thalassemia, a progressive paraparesis developed because of a mass of ectopic marrow in the spinal epidural space. Surgical removal and radiotherapy were successful. The second patient, who died during surgical biopsy, had posterior mediastinal masses without any apparent cause. A correct preoperative diagnosis may avoid unnecessary surgical intervention. It is suggested that heterotopic marrow should be included in the differential diagnosis of a mass in the lower thoracic region.
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PMID:Tumor-simulating thoracic extramedullary hematopoiesis. 746 78

Two New Jersey families were diagnosed with myeloproliferative disorders. Each family had an associated disorder: beta-thalassemia and lung carcinoma. In both families, neoplasia in the second generation was diagnosed at an earlier age than in the predecessors.
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PMID:Myeloproliferative disorders in two New Jersey families. 767 37


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