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

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

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

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

Hemoglobin H disease was diagnosed prior to the twenty-second week of gestation in a pregnancy at risk for homozygous alpha-thalassemia using the technique of DNA-DNA hybridization. Fetal DNA was obtained from amniotic fluid fibroblasts obtained during the thirteenth week of gestation and grown in culture. The fetal fibroblast DNA was hybridized to radioactive alpha-globin cDNA. The number of alpha-globin genes present in the fetus was determined by comparing results of hybridization studies on the fetal DNA to similar studies on subjects with well-defined alpha-thalassemia syndromes and with normal subjects. The diagnosis of hemoglobin H disease was confirmed at birth by studies of the cord blood. This study confirms the ability of DNA-DNA hybridization techniques to distinguish the three-gene defect of hemoglobin H disease from the lethal four-gene defect of homozygous alpha-thalassemia.
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PMID:Prenatal diagnosis of hemoglobin H disease. 7 7

The synthesis of fetal hemoglobin was investigated in in vitro cultures of erythroid precursors isolated from peripheral blood of normal individuals, newborns and of subjects with different hemoglobinopathies. Synthesis of hemoglobin was assessed by 35s-methionine labeling of cultures and measurement of the radioactivity incorporated into the hemoglobins A2, A, F and S isolated by column chromatography on DE 52 cellulose. The erythroid precursors from most of the studied individuals cultured in in vitro system responded with synthesized an average of 15% of Hb F while cultures from newborns produced an average of 60% of Hb F in comparison of 73% of Hb F in peripheral blood of the same newborns. Erythroid precusors from subjects heterozygotes for beta-thalassemia, heterozygotes for HPFH, and homozygotes for Hb S produced an average of 20%, 43% and 30% of Hb F, respectively, in comparison of 7%, 14% and 9% of Hb F, respectively, present in the RBC of the same individuals. These data support the previously published results (6-11) that erythroid bursts in culture reactivate the structural genes for the gamma chain synthesis.
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PMID:[Preferential synthesis of fetal hemoglobin in in vitro cultures of erythroid precursors from peripheral blood of healthy persons and those with hemoglobinopathies]. 9 30

Data are presented on several polymorphic genetic markers in 200 Greek gypsies. Polymorphic loci studied were: the ABO, MN, Rhesus, Kell and Duffy blood groups, hemoglobin, and ceruloplasmin. A survey for congenital malformations and hereditary diseases was also carried out on this group. The ABO, Rhesus, MN and Duffy system frequencies varied significantly from the figures obtained for the Greek population. However, there is a characteristic similarity between various gypsy groups studied in other nations and the distribution of polymorphic traits in the Punjab region of India. Cystic fibrosis, renal tubular acidosis, 21-hydroxylase deficiency, Hoty-Oram syndrome and homozygous beta-thalassemia were diagnosed within the gypsy group studied.
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PMID:Genetic structure of the Greek gypsies. 10 65

The study of a Malian family has allowed to prove existence of two types of beta-thalassemia genes: the beta0 gene which suppresses the synthesis of the beta chain into cis position and the beta+ gene which slows down only partially this synthesis. The difference between this two genes has been possible owing to the hemoglobin C found in this family and induced by the betaC mutated gene. The segregation of the four genes betaA, betaC, beta0 thal, and beta+ thal. has allowed to compare all the possible phenotypes deriving from the combinations by two of these allelic genes.
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PMID:[Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)]. 12 35

A high percentage of Greek children with homozygous b-thalassemia were short and had a lag in growth, though some severely affected attained normal height. Bone age lagged significantly behind the chronologic age, even in those with normal height for their age. A longitudinal study demonstrated an initial normal growth velocity which decreased after the age of six for males and eight for females. No patient had a spurt of growth at adolescence. Height gain continued up to the age of 21 and then ceased. Statistical analysis with a multiple regression equation showed a significant relationship between the age and height of the patients. Low hemoglobin levels and severity of the disease seemed to hinder normal growth, but neither relationship was statistically significant.
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PMID:Stature and longitudinal growth in thalassemia major. A study of 229 Greek patients. 16 11

Interaction of acetylphenylhydrazine with oxyhemoglobin A in a hemolysate or in intact red cells resulted in the formation of ferrihemochromes as shown by a characteristic optical spectrum. The same optical spectrum was observed in a suspension of red cell ghosts containing numerous Heinz bodies. Electron paramagnetic resonance of actylphenylhydrazine-incubated red cells disclosed the presence of previously identified reversible ferrihemochromes, which can be reduced to functional hemoglobin, and irreversible ferrihemochromes, which cannot be reduced to functional hemoglobin. (Ferrihemochromes are defined as low spin forms of ferric hemoglobin having heme ligands endogenous to the protein structure). In contrast, only irreversible ferrihemochromes could be observed in ghosts containing Heinz bodies. In addition both optical and magnetic features of sulfhemoglobin were observed in an acetylphenylhydrazine-treated red cell hemolysate. Similar optical features are produced by the interaction of aromatic nitrogen-containg reductants with purified oxyhemoglobin in the presence of (NH4)2S. This reaction is not effected by the presence of catalase, suggesting that H2O2 is not an intermediate of the reaction. It is concluded that the mechanism of action of acetylphenylhydrazine with oxyhemoglobin is two-fold, ultimate reduction to high spin ferric hemoglobin followed by ferrihemochrome formation. Thus it appears that the pathway of denaturation of hemolytic anemias and thalassemia or induced by chemical reagents, entails a common route involving the formation of ferric hemoglobin by a reductive mechanism, followed by reversible ferrihemochromes, irreversible ferrihemochromes, and ultimately, precipitation.
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PMID:The demonstration of ferrihemochrome intermediates in heinz body formation following the reduction of oxyhemoglobin A by acetylphenylhydrazone. 16 36

The existence of frequent hemoglobin abnormalities raises a Public Health problem in Algeria. The presence of genes for hemoglobin S, hemoglobin C and thalassemia in various regions of the country causes severe congenital hemolytic anemias: thalassemia, sickle-cell anemia, S thalassemia, association of HbS and HbC. These diseases are often invaliding requiring frequent admissions to hospital and have a high social cost. We have also observed certain rare hemoglobins, of which some, hemoglobin Setif, hemoglobin D Ouled Rabah were described for the first time in Algerians. They are not pathogenic in the heterozygous state.
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PMID:[Abnormal hemoglobins in Algeria]. 19 6


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