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)

The risk of bacterial sepsis in the surgically or functionally asplenic host is reviewed. The lowest morbidity occurs in patients splenectomized because of trauma to the spleen; the highest morbidity occurs in patients splenectomized for thalassemia. There is approximately a 50% mortality associated with sepsis secondary to asplenia and the pneumococcus is responsible for over 50% of the cases. Normal spleen function and alteration in host defense occurring as a consequence of asplenia is discussed. Finally, alternatives to and indications for splenectomy as well as prophylactic measures are considered. It is concluded that, at the present time, antibiotic coverage for an indefinite period of time may be indicated for surgically or functionally asplenic patients.
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PMID:Bacterial infection and the asplenic host: a review. 0 50

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.
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PMID:A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. 1 24

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.
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PMID:Autosomal recessive postaxial polydactyly type A in a Sicilian family. 2 39

Hemoglobin Crete, beta129 (h7)ala leads to pro, is a new mutant hemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with beta- and deltabeta-thalassemia. The propositus, who presented an unusual clinical picture of an "overcompensated" hemolytic state, with erythrocytosis, splenomegaly, abnormal red cell morphology, and marked erythroid hyperplasia, appeared doubly heterozygous for Hb Crete and deltabeta-thalassemia. His red cells contained 67% Hb Crete and 30% Hb F, and the combination of these two hemoglobins resulted in a blood P50O2 of 11.2 mm Hg. A brother with Hb Crete trait (38% Hb Crete, 56% Hb A, blood P50O2 23.0 mm Hg) did not have significant erythrocytosis. Purified Hb Crete was heat-unstable and exhibited a high oxygen affinity, and a normal Bohr effect. We postulate that the beta 129 proline substitution disrupts the H helix, perturbing nearby residues involved in alpha 1 beta 1 contact sites of the Hb tetramer.
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PMID:Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia. 3 84

The activities of orotate phosphoribosyl transferase (OPRT) and orotidine monophosphate decarboxylase (ODC) were significantly elevated (P less than 0.001) in erythrocytes (RBC) from five patients with prednisone-responsive congenital hypoplastic anaemia (CHA). (OPRT: patients - 10.1--64.2 nmol/h/10(9) RBC; controls - 2.8 +/- 0.3 (mean +/- SEM, n = 37); ODC: patients = 30--124 nmol/h/10(9) RBC; controls = 10.2 +/- 0.7 (mean SEM, n = 37).) Two patients had a less pronounced, but significant, increase of aspartate transcarbamylase activity and three patients had marginal increases of dihydroorotase activity. Dihydroorotate dehydrogenase activity was not detected in any CHA patient or control. In one patient prior to prednisone therapy, the OPRT and ODT activities were elevated 10-fold and remained elevated 3-fold after 16 months of therapy. An elevated enzyme pattern similar to that of RBC from CHA patients was observed in three parents of three CHA patients, but not in three parents of two other CHA patients. The activities of all five pyrimidine enzymes were normal for one patient with transient erythroblastopenia of childhood. In contrast, the activities of all the pyrimidine biosynthetic enzymes were elevated in blood from patients with a young RBC population: sickle cell anaemia, sickle-beta-thalassaemia, hereditary spherocytosis, and DiGuglielmo syndrome and from the newborn. It is postulated that factors which affect the activities of pyrimidine enzymes in CHA may also result in diminished erythropoiesis.
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PMID:Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 3 27

The importance of the haemoglobinopathies, mainly thalassaemia, as a public health problem has been emphasized. The establishment of methods for detection and diagnosis of haemoglobinopathies is the major step in laboratories dedicated to screening anemias. Tables for the diagnosis of alpha and beta thalassaemia are proposed, the methods to identify abnormal haemoglobins are discussed and a map with the relative mobilities of 115 abnormal haemoglobins by electrophoresis in alkaline buffer is shown.
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PMID:[Laboratory investigation of hemoglobinopathies (author's transl)]. 4 21

Complementary DNA (cDNA) was prepared with RNA-dependent DNA polymerase from human globin messenger RNA (mRNA). Annealing and translation experimenta with total mRNA from circulating cells from a patient with heterozygous beta/heterozygous beta-delta-o thalassemia (beta-o/delta beta-o-thalassemia) demonstrated no detectable mRNA for beta-globin. cDNA enriched in sequences homologous to beta-globin mRNA was prepared by hydroxylapatite fractionation of hybrids formed between beta-o/delta beta-o-thalassemic mRNA and cDNA made from mRNA from a patient with alpha-thalassemia (hemoglobin H disease). The rate of annealing of this beta-enriched cDNA to normal human nuclear DNA was that of a sequence present as only a single copy per haploid genome. The beta-enriched cDNA annealed to the beta-o-delta beta-o-thalassemia total DNA with approximately the same kinetics as to normal DNA, indicating that no total gene deletion of beta-globin genes from the diploid genome has occurred, although the accuracy of the technique could not exclude with certainty a partial deletion or a deletion of a beta-globin gene from only one of the haploid genomes. This demonstrates that at least one of the beta-o- or the delta beta-o-thalassemia haploid genomes in this case contains a substantially intact beta-globin gene.
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PMID:Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. 4 57

Normal adults may have two distinct erythroid precursor populations, a major one which produces only adult haemoglobin (HbA), and another which produces HbA and fetal haemoglobin (H0F) (F cells). Persistence or apparent reactivation of HbF production in adults results from differential selection of these F cells, except in those rare conditions which are due to specific deletions of D.N.A. involved in suppression of gamma-chain synthesis. The increase in HbF which results from a genetically determined increase in F cells appears to ameliorate sicke-cell anaemia or beta thalassaemia. Augmentation of the F-cell population might offer a therapeutic approach to these disorders.
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PMID:A model for the persistence or reactivation of fetal haemoglobin production. 6 May 21

The effects of intramuscular injection and subcutaneous infusion of desferrioxamine (D.F.) on urinary iron excretion were compared in eleven patients with thalassaemia major and one with congenital sideroblastic anaemia who were being maintained on regular blood-transfusions. Total (48-hour) urinary iron excretion ranged from 3-3 to 40-3 mg (mean 16-3 mg) in nine patients who received 750 mg D.F. intramuscularly before transfusion and from 3-9 to 32-3 mg (mean 11-9 mg) in ten patients who received D.F. by the same route after transfusion. In all 9 patients studied before transfusion, continuous subcutaneous infusion of 750 mg D.F. over 24 hours increased iron excretion by 61-5 to 135-8% (mean 101+/-25-4 S.D.%) compared with intramuscular injection of a similar dose. In the 10 patients studied after transfusion, the iron excretion produced by continuous subcutaneous infusion was from 18-9 to 213% (mean 128+/-74-3%) more than that produced by a single intramuscular injection of D.F. When the subcutaneous dose over 24 hours was increased to 1500 mg in six patients, 48-hour iron excretion ranged from 29-2 to 81-2 mg (mean 52-4 mg) and was increased by 80-2--794% (mean 429%) compared with the excretion when 750 mg was given by intramuscular injection. It is concluded that continuous subcutaneous infusion of D.F. produces more iron excretion in patients with iron overload than intramuscular injection. Providing a suitable portable pump can be carried by the patients, continuous subcutaneous infusion of desferrioxamine may prove a valuable means of preventing or treating iron overload in anaemic patients maintained on regular transfusions.
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PMID:Subcutaneous infusion and intramuscular injection of desferrioxamine in patients with transfusional iron overload. 6 49

The still increasing amount of carriers and anemics by thalassemia (Th) and other Hb-pathies (approximately 4,000 among approximately 48,000 investigated people) have shown that Campania is the most affected world area by all Hb Lepre conditions. Among 161 people with heterozygous Hb Lepore we have noticed 10 cases associated with (hemo-) blastomata as follows: 2 Chr. Lymphatic Leukemia, 2 Ac. Lymphoblastic Leukemia, 1 Lymphosarcom, 1 Colon Cancer, 1 Uterin Cancer, 1 Plasmocytom, 1 Hodkgin Disease, 1 Ac. Promyelocyte Leukemia (or fatal ac. agranulocytemia?). In the literature we recently found 2 other similar cases. The incidence of such malignancies in our Hb Lepore people reaches 6%. On the contrary in the heterozygous Th. group, among 3,150 carriers, we diagnosed only 20 people with (hemo-) blastomata as follows: 12 Ac. Leukemia (9Lymphoblastic) and 8 Chr. Myeloid Leukemia, with an incidence rate of 0.6% namely a little higher than in normal people. This highly significant discrepancy rate shows an elective predisposition to (haemo-) blastomata from Leporian people.
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PMID:Hb Lepore and (haemo-) blastomata. 6 34


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