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)

Mice of the mutant haplotype (Hbbs2) produce a variant beta-s globin (beta-s2major) which can be distinguished from beta-smajor and beta-sminor by cellulose acetate electrophoresis and ion exchange chromatography. Mice homozygous for this mutation were used to study the relative quantities of the mutant beta-s2major and normal beta-sminor globins specified by the two adult beta-globin genes of the Hbbs2 haplotype during development. At 11.5 days of gestation, beta-s2major comprises under 20% and beta-sminor over 80% of the adult beta-globin. The relative level of beta-sminor decreases through fetal development; at birth beta-sminor represents 33.7% of the beta-globin. The adult value of 71.0% beta-s2major and 29.0% beta-sminor globin is expressed in mice 6 days after birth. In mildly anemia alpha-thalassemic heterozygotes (Hbab2(th)/Hbab;Hbbs2/Hbbs2) the level of beta-sminor globin increases from 29.0 to 37.9%, but beta-sminor is elevated only slightly (29.0 to 33.9%) in asymptomatic beta-thalassemic heterozygotes (Hbab/Hbab;Hbbd3(th)Hbbs2). The relative quantity of beta-sminor is increased significantly (29.0 to 41.4%) in doubly heterozygous alpha-thalassemic, beta-thalassemic mice (Hbab2(th)/Hbab;Hbbd3(th)/Hbbs2). The relative levels of expression of the beta 1s2major and beta 2sminor globin genes of Hbbs2/Hbbs2 mice correlates well with the expression of the beta 1dmajor and beta 2dminor globin genes of Hbbd/Hbbd mice during development and in response to hematological stress caused by thalassemia. Expression of the beta 1sminor globin gene should not have been affected by the ENU-induced base substitution in the beta 1smajor gene. Therefore, we propose that the beta 1sminor gene is also expressed in mice of the Hbbs haplotype. The results also indicated that the two adult beta-globin genes of the Hbbs2 and, presumably, of the Hbbs haplotypes are regulated independently as are the beta 1dmajor and beta 2dminor genes of the Hbbd and Hbbp haplotypes.
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PMID:Use of a new mouse beta-globin haplotype (Hbbs2) to study hemoglobin expression during development. 407 48

Seventy-four sicklers with bone pain had blood taken for biochemical analysis of the haemoglobins carried. Sixty-five patients with sickle cell disease diagnosed as Hb S/S disease, five patients diagnosed as Hb A/S and four patients with three haemoglobin bands corresponding to Hb's A, S and C were used in this quantitative reassessment on cellulose acetate. Haemoglobin A2 level was determined in all cases and alkali resistant haemoglobin level in twenty-nine cases. The significance of raised Hb A2 levels in some of these cases is discussed with relation to the possible existence of Hb S/beta-Thalassaemia in the sickle cell disease patients examined.
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PMID:Biochemical diagnosis in sickle cell disease. 517 34

The diagnosis of Hb SS/GPhiladelphia disease was made in four young Nigerians from separate families. Their Hb electrophoretic patterns on cellulose acetate membrane at alkaline pH were similar to those obtained in sickle-cell haemoglobin C (HbSC) disease, but their clinical features and haematological data were consistent with the diagnosis of homozygous sickle-cell disease. Family studies also revealed that they had inherited an additional alpha-chain mutant haemoglobin. In one of the families, fingerprints of the globin peptides and amino acid analysis confirmed that the mutant haemoglobin was Hb GPhiladelphia (alpha 2 68 Asn----Lys beta 2 A). The results of the whole blood solubility test for sickle-haemoglobin provided firm support for the diagnosis of homozygous sickle-cell disease and distinguished clearly Hb SS/GPhiladelphia disease from Hb SC disease and Hb AS from Hb AGPhiladelphia heterozygotes. Restriction endonuclease mapping of the globin genes of the propositus and some relatives of one of the families revealed also that they were carriers of the alpha-thalassaemia-2 gene (deletion-type). The globin gene-analysis data indicate also that the alpha GPhiladelphia and alpha-thalassaemia genes are linked closely in Nigerians.
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PMID:Haemoglobin GPhiladelphia and its interaction with haemoglobin S and alpha-thalassaemia in Nigerians. 648 38

The amino acid compositions of tryptic peptides and cyanogen bromide fragments of the purified zeta chain of Hb Portland I (zeta 2 gamma 2) and Hb Portland II (zeta 2 beta 2) have been determined. The hemoglobins were obtained from blood from neonates with hydrops fetalis due to homozygous alpha-thalassemia. The globin chains, tryptic peptides and cyanogen bromide fragments were all separated by reverse phase high performance liquid chromatography (HPLC). Several different types of C-18 columns were used with two different developer systems. The tryptic peptides of aminoethylated zeta chain were separated using an ammonium acetate-acetonitrile gradient. An aqueous trifuoroacetic acid-1-propanol developer gradient was used for the separation of cyanogen bromide fragments. Of the seventeen tryptic peptides obtained, two (zeta T10a and zeta T10b) resulted from the unusual cleavage of a Tyr-Ile peptide bond. This was observed even when using TPCK treated trypsin. From this study and results of others, it can be deduced that trypsin will hydrolyze the Tyr-X bond provided either Ala or Ile is bonded to the N-terminal side of Tyr and Ile, Leu, or Gly is bonded to the C-terminal side of the Tyr residue.
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PMID:Separation of the tryptic peptides and cyanogen bromide fragments of the human embryonic zeta chains of hemoglobin in Portland I and II by reverse phase high performance liquid chromatography. 650 Sep 86

Using IEF on slabs of acrylamide gel was adapted for screening of abnormal Hemoglobins which are at the same level by electrophoresis on cellulose acetate strips. This method is fast, inexpensive and allowed the simultaneous analysis of 70 samples of whole blood. The characterization technique of IEF allowed us to distinguish some rare variants like Hb O Arab, HbD and T gamma in B 0-thalassemia.
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PMID:[Identification of abnormal hemoglobins by isoelectric focusing]. 653 14

We have investigated the use of a high-performance liquid chromatographic (HPLC) column packed with a unique weak cation exchanger prepared by coating silica with poly(aspartic acid) for hemoglobin analysis. The complete separation of hemoglobin Bart's F, A0, A2, S, C, D, E, G, SG, Winnipeg and Sealy was achieved by gradient elution within 30 min. The high resolution made it possible to distinguish hemoglobin variants such as Bart's, AC, AD, AE, AG, AS, ASG, CC, SC, SS, Winnipeg, Sealy and beta-chain variants with thalassemia such as S/beta +, S/beta 0 and S(C)-beta + thalassemia. Comparison of DEAE-cellulose column chromatography and our HPLC method for the quantitation of hemoglobin A2 yielded a good correlation. Hemoglobins A2, C and E are completely resolved on PolyCAT A columns in contrast to both cellulose acetate electrophoresis and DEAE-cellulose column chromatography. The high resolution of the system and the accuracy of the method combined with complete automation make this procedure useful for diagnosis of hemoglobin disorders in both a research and clinical laboratory environment.
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PMID:High-performance liquid chromatography of human hemoglobins on a new cation exchanger. 663 Mar 48

The hemoglobin patterns of 293 cord bloods from Northern Algeria were examined by electrophoresis on cellulose-acetate strips. A fast-moving component, identified as Hb Bart's, was found in about 10% of the cases. The levels of Hb Bart's ranged from 0.1 to 10% of the total hemoglobin. There was a significant correlation between the Hb Bart's levels and the decrease in MCV. The relative rates of globin chain synthesis measured by 3H-leucine incorporation was estimated in 15 cord bloods. It was found imbalanced in the 5 cord bloods which contained more than 0.5% Hb Bart's. These findings suggest that elevated Hb Bart's levels in the Algerian population are due to the presence of alpha-thalassemia.
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PMID:Hemoglobin Bart's in Northern Algeria. 678 87

A new cation-exchange HPLC method is described for the separation and quantitation of abnormal human Hbs. The method makes use of Synchropak CM 300, a silica support with carboxylic acid residues, and Bis-Tris-KCN-Na-acetate developers and allows a completion of the chromatogram in 50 to 90 min depending on the sample to be analyzed. Specific chromatographic profiles have been obtained for several beta, alpha, and delta chain variants. The method is useful not only for the quantitation of Hb F and Hb A2 (except in the presence of Hb E) but also provides easy differentiation between simple heterozygotes for a specific abnormality and persons with the same abnormality together with an additional beta-thalassemia heterozygosity. Probably the most important application of the new procedure is in the quantitation of Hb A and the beta chain variants S, C, O-Arab, and E in cord blood samples, thus facilitating the diagnosis of conditions such as AE, EE, AS, SS, S-beta +thal, AC, CC, C-beta +thal, SC, and SO in newborn babies.
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PMID:A new high-performance liquid chromatographic procedure for the separation and quantitation of various hemoglobin variants in adults and newborn babies. 686 67

Hb Evanston (alpha 14 Trp leads to Arg) was detected on cellulose acetate at pH 8.4 as a band with an electrophoretic mobility similar to that of Hb S. In addition, a band migrating cathodic to Hb A2 suggested the presence of a variant Hb A2 with a substitution in the alpha-chain, a fact that was later confirmed by structural analysis. An unusual feature of Hb Evanston is its low percentage; less than 10% occurs in the hemolysate. Studies indicate that the variant is not unstable, but there appears to be a defect in globin-chain synthesis. Gene mapping also shows that it is associated with the alpha-thalassemia-2 gene. The variant has high oxygen affinity with normal cooperativity and a normal Bohr effect. The combination of Hb Evanston with alpha-thalassemia-2 produced anemia in this black family.
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PMID:Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. 688 79

In this study the prevalence of the different beta-thalassaemia types in southern Sardinia was investigated by cellulose acetate and agar gel electrophoresis or globin chain synthesis analysis on column chromatography or both in (1) all the patients (347) presenting with thalassaemia major or intermedia at our haematology service from 1976 to 1979, and (2) a group of 82 patients with transfusion-dependent thalassaemia major randomly chosen from 236 under our care. Apart from six subjects with delta(beta)0/beta+-thalassaemia genotype and eight with beta0/beta+ or less probably beta+/beta/-thalassaemia, all thalassaemia major and intermedia patients studied were beta0-thalassaemia homozygotes. Globin chain synthesis on peripheral blood cells from these patients, performed at different intervals from blood transfusion, showed no incorporation of radioactive leucine into beta-globin peak, the same as before the transfusion. No correlation between kappa/gamma ratios and clinical severity or hypersplenism was found. Globin chain synthesis analysis carried out at birth in three infants later found to have homozygous beta0-thalassaemia demonstrated imbalanced or borderline kappa/gamma ratios.
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PMID:Beta-Thalassaemia types in southern Sardinia. 724 42


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