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)

An Indian (Asian) patient with compound heterozygosity for Hb Riyadh and beta 0-thalassemia is described. Hb Riyadh forms about 95% of the hemoglobin present. The clinico-pathological picture is identical to that of simple beta-thalassemia trait confirming the harmless nature of the substitution beta 120(GH3) Lys leads to Asn.
Hemoglobin 1979
PMID:Hemoglobin Riyadh-beta 0-thalassemia in an Indian family. 51 84

During a survey for abnormal hemoglobins in Polesine (a region north of the Po river, where beta-thalassemia is very frequent) a slow moving variant was noted in a 79-yr-old woman living in Gavello, a small town in the province of Rovigo. Structural studies demonstrated a previously undescribed amino acid substitution, beta47 Asp replaced by Gly. This new variant has been named Hb Gavello.
Hemoglobin 1977
PMID:Hemoglobin Gavello - alpha 2 beta 2 47 (CD6) Asp replaced by Gly. A new hemoglobin variant from Polesine (Italy). 60 15

Microcolumn chromatography and a new test tube method for quantitation of hemoglobin A2 were compared with column chromatography on DEAE-Sephadex, starch block and cellulose acetate electrophoresis to ascertain their relative accuracy, precision, reproducibility and speed. One hundred seventy-four blood specimens, including 90 samples from genetically proven beta-thalassemia heterozygotes were examined. The mean Hb A2 values in normal and beta-thalassemia heterozygotes were: 2.3% and 4.7%, respectively, determined by microcolumn chromatography; 2.3% and 4.9%, respectively, determined by a new test tube method; 2.5 and 4.6%, respectively, determined by column chromatography on DEAE-Sephadex; 2.6% and 4.8%, respectively, determined by starch block electrophoresis; and 2.4% and 4.8%, respectively, determined by cellulose acetate electrophoresis. Although all five methods were found to be reliable and reproducible, the microcolumn chromatographic method and the newly developed test tube method using DE-52 cellulose are the most rapid, reproducible, economical, and well suited for large scale surveys. By microcolumn chromatography, 7,953 school children and 2,710 other cases were screened for the quantity of Hb A2. In these samples, 578 beta-thalassemia heterozygotes were detected.
Hemoglobin 1977
PMID:An evaluation of the methods for quantitation of hemoglobin A2: results from a survey of 10,663 cases. 60 18

Frequencies of various hemoglobinopathies were examined in a total of 1,922 individuals of Eti-Turk origin by electrophoretical techniques. Hemoglobin A2 (Hb A2) and hemoglobin F (Hb F) determinations were also performed in 651 and 1,642 cases, respectively. Mean hemoglobin S (Hb S) frequency was found to be 15.3%. Variations among the different age groups were insignificant. Hemoglobin E (Hb E) and beta-thalassemia frequencies wer 0.47 and 1.23%, respectively. Hemoglobin Hacettepe and hemoglobin D were found once. Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 6.5% of males.
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PMID:Hemoglobin S and some other hemoglobinopathies in Eti-Turks. 61 18

Hb Vancouver (alpha2beta2 73 (E17) ASP yieldTYR) was found in combination with betaomicron thalassemia trait in a Chinese male who presented with splenomegaly and thalassemia intermedia (3). The family study has revealed two members with beta thalassemia trait, one heterozygote for Hb E, and two heterozygotes for Hb Vancouver. The Hb Vancouver heterozygotes were clinically normal but their erythrocytes showed reduced osmotic fragility and occasional target cells.
Hemoglobin 1978
PMID:Clinical and hematological studies in a family with hemoglobin Vancouver. 64 Aug 52

The structure, properties, genetics, and clinical and biochemical expression of hemoglobins Lepore (deltabeta) and anti-Lepore (betadelta) are described. In addition to the three Lepore variants (Lepore Hollandia, Lepore Baltimore and Lepore Washington) at least four anti-Lepore variants (Miyada, P Nilotic (P Congo), Coventry and Lincoln Park) are known at the present time. All known hemoglobins Lepore and anti-Lepore are products of non-homologous crossing-over between the delta and the beta genes. Although the Hb Lepore condition is expressed phenotypically and clinically as beta thalassemia, the presence of about 10% of Hb Lepore distinguishes the condition hematologically from beta thalassemia. Data on the hematological and biochemical expression of this hemoglobinopathy are presented. In contrast to the anemia in the Lepore condition, there is no phenotypic evidence of thalassemia in persons with hemoglobin anti-Lepore, because no beta chain deficiency accompanies the latter condition. Although no adequate explanation has been advanced concerning the factors which maintain a low synthesis of the Lepore and anti-Lepore chains, it has been suggested that multiple rare codons may introduce rate-limiting steps or that the deltabeta and betadelta mRNAs may be unstable. Data on the geographical distribution and structural identification of Hb Lepore are presented.
Hemoglobin 1978
PMID:Hemoglobins Lepore and anti-Lepore. 70 Oct 81

In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The severity of hemoglobin H disease in Sardinian subjects shows a high degree of variability. Clinically it usually appears intermediate between the hemoglobin H disease found in Oriental and Negro populations. The alpha/beta specific activity ratio was 0.42 +/- 0.10 indicating an analogous biochemical defect like that described in the Chinese. On the basis of hematological data and alpha/beta ratio, the genetics of hemoglobin H disease in Sardinians seem to follow a pattern similar to that observed in Orientals: one parent showing alpha-thalassemia-1 trait and the other alpha-thalassemia-2 trait. Parent offspring transmission of hemoglobin H disease did occur in 2 out of 6 hemoglobin H matings with spouses carrying the alpha-thalassemia-1 gene. This observation indicates either a high frequency of alpha-thalassemia trait in Sardinians or a high incidence of inbreeding. In one family the mating of a patient with hemoglobin H disease and a normal person produces 6/6 offspring with alpha-thalassemia-1. The genetic implications of this transmission pattern are discussed.
Hemoglobin 1978
PMID:Hemoglobin H disease in Sardinia: phenotypic and genetic observations. 70 Oct 89

Whether the trimodality in the relative concentration of the hemoglobin variant Hb Leslie in heterozygotes (Huisman, Hemoglobin 1:349-382, 1977) is due to a polymorphism of the alpha-chain structural genes was investigated by conventional incubation of reticulocytes with 14C-leucine. In addition, an aliquot from each of the incubations was incubated under the same conditions but without isotope. Three Hb Leslie heterozygotes with presumably four, three (heterozygous alpha-thalassemia-2), and two (homozygous alpha-thalassemia-2) active alpha-chain genes and with 33%, 22% and 11% Hb Leslie respectively, and one patient with the Hb Leslie beta(0)-thalassemia condition with more than 85% Hb Leslie were studied. The data indicate that betaLeslie chains have a lower affinity for alpha chains that betaA chains. A concomitant alpha-chain deficiency results in a reduced incorporation of betaLeslie chains into the tetrameric Hb Leslie molecules, while the quantity of Hb Leslie produced correlates with the degree of alpha-chain deficiency. Excess of betaLeslie chains is preferentially degraded.
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PMID:Is the trimodality of Hb Leslie (alpha 2 beta 2 131 Gln---O) in heterozygotes the result of a variable number of active alpha-chain genes? Evidence for posttranslational control of hemoglobin synthesis. 74 78

A 25-year-old male patient of Kurdish Jewish origin presented with mild anemia and splenomegaly. The acidified serum test was strongly positive with three of four normal sera and the anti-i agglutination of the red cells was negative. Hemoglobin electrophoresis showed an increase of Hb A2 (3.4%). Blood smears showed changes compatible with thalassemia. On bone marrow examination, approximately 3% of the normoblasts showed changes typical of dyserythropoiesis, including binucleated orthochromatic normoblasts and large trinucleated and quadrinucleated megaloblasts. Ultrastructural studies of the bone marrow cells revealed characteristic features of congenital dyserythropoietic anemia, including irregular cytoplasmic pseudopodia, perinuclear cisternae, intrusion of cytoplasmic material into the nucleus and incomplete cytoplasmic cisternae.
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PMID:An unusual type of congenital dyserythropoietic anemia with thalassemia features. 75 May 39

Three delta beta-thalassemia homozygotes were found in a Mexican family. Both parents and two sibling had heterozygous delta beta-thalassemia with about 10% Hb F, mild microcytosis and mild hypochromia, while three siblings were normal. Hb F, which was the only Hb component in the homozygotes, had equal quantities of Ggamma and Agamma chains as in BgammaAgamma-delta beta-thalassemia. The homozygotes had comparable erythrocytic indices which were about the same as those of the heterozygotes. However, two were clinically and hematologically healthy but the third had a severe chronic hemolytic anemia and a more severe in vitro chain synthesis imbalance than her homozygous sisters. Comparison of these cases with other GgammaAgamma-delta beta-thalassemia homozygotes and with GgammaAgamma-HPFH homozygotes indicates the possibility that the proliferation of F-cell precursors may be defective in delta beta-thalassemia.
Hemoglobin 1978
PMID:Delta beta-thalassemia in a Mexican family: clinical differences among homozygotes. 75 May 52


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