Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobin Pasadena [beta 75(E19)Leu----Arg] was found in a boy who had an acute episode of anemia and rapid splenic enlargement. His father was the only other member of a large family with this hemoglobinopathy. We have used gene mapping techniques for direct identification of the beta-globin gene mutation. To correlate the DNA findings with the structural identification of this variant, we have also performed globin chain separation and analysis of the tryptic peptides using high performance liquid chromatography and secondary ion mass spectral analysis.
 ...
PMID:Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes. 334 4

Hemoglobin crystals phagocytized by polymorphonuclear leukocytes were seen in cytologic preparations of a cerebrospinal fluid and two pleural fluids. In the last two cases, the crystals were seen within erythrocytes and also free in the background. Intraerythrocytic crystallization of hemoglobin is the result of polymerization of the hemoglobin molecules; it occurs in peripheral blood in certain hemoglobinopathies, being more pronounced in hemoglobin C disease. In our three cases, in which the crystallization occurred not in peripheral blood but in fluids of confined body spaces, there was no clinical evidence of hemoglobinopathy and blood hemoglobin electrophoresis performed in one of the cases revealed normal hemoglobin. Under laboratory conditions, we produced intraerythrocytic crystallization of hemoglobin in hemorrhagic pleural fluid specimens by subjecting them to agents that induced decreased oxygen concentration and osmotic dehydration of the cells. We suggest that similar processes operative in fluid accumulated in confined body spaces produce crystallization of the hemoglobin of extravasated red blood cells in the absence of hemoglobinopathy.
 ...
PMID:Hemoglobin crystals in fluid specimens from confined body spaces. 342 38

Two plasmids (labelled pUC-2 gamma-beta and pUC-2 beta-delta), each containing three different human globin gene fragments (gamma IVS-II, inter-gamma, and beta IVS-II in pUC-2 gamma-beta, and 5'-beta, 3'-beta, and delta IVS-II in pUC-2 beta-delta) have been constructed. The three gene fragments could be isolated simultaneously from Eco RI/Bam HI double digests of each of the two plasmids using electrophoresis in an 1.0% agarose gel. This facilitates the large-scale isolation of the gene fragments for use as probes in studies such as the analysis of beta-globin gene cluster polymorphisms or of the molecular basis of some hemoglobinopathies.
Hemoglobin 1987
PMID:Construction of two plasmids, each containing three different human globin gene fragments. 347 59

The present report summarizes the results of a search for hemoglobinopathies in 142,171 persons in Xinjiang, the results of structural analyses of abnormal hemoglobins in 134 families, and the incidence and distribution of abnormal hemoglobins and the thalassemias in eight ethnic groups or nationalities.
Hemoglobin 1986
PMID:Hemoglobinopathies in Xinjiang. 374 74

Prenatal diagnosis of thalassemia and of the hemoglobinopathies is now accepted as an effective measure to reduce the impact of these diseases in populations where they occur in high frequencies. The procedure has been carried out on more than 5,000 cases over the past decade. Evaluation of the results shows a significant decrease of the yearly number of affected newborns and reflects a considerable gain in economic and medical resources. Methodology has improved over the years so as to make the procedure safer, faster, and less expensive. Among recent advances, gene mapping on trophoblast DNA (as early as the 9th week of pregnancy) represents a major step which will gradually replace conventional procedures (performed during the 18-20th week of pregnancy) in concerned laboratories.
Hemoglobin 1985
PMID:Prenatal diagnosis of thalassemia and of the hemoglobinopathies; a review. 391 Jun 16

Hemoglobin E occurs in 30 million people, primarily Southeast Asians. Their resettlement within the US has dramatically increased the incidence of E hemoglobinopathies. A gravid Vietnamese woman with thalassemia major is reported herein. Her pregnancy was complicated by severe anemia, intrauterine growth retardation, and a paraspinal mass representing extramedullary hematopoiesis. The diagnosis of hemoglobin E/beta o-thalassemia was established when analysis of her hemoglobin showed 60% F, 40% E, and 0% A. The patient was transfused with packed red blood cells to maintain the maternal hematocrit at 30%. A term growth-retarded infant was delivered who had severe thrombocytopenia and an imperforate anus. The infant's thrombocytopenia responded only to infusion of maternal platelets. The differential diagnosis and expected hematologic manifestations of the various E hemoglobinopathies are detailed. Hematologic and obstetric guidelines for management during pregnancy are offered.
 ...
PMID:Hemoglobin E and pregnancy. 401 Oct 63

Hemoglobin and DNA gene analyses were carried out in two Black Canadian families. In Family Q, both the parents and the brother were found to be heterozygotes for alpha-thalassemia-2 with the following alpha-genotypes: -alpha 3.7/alpha alpha, -alpha 4.2/alpha alpha and -alpha 4.2/alpha alpha, respectively. In Family C, the mother was found to be a homozygote for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 3.7. In both families, the propositi were compound heterozygotes for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 4.2. The propositus in Family C was also a sickle cell trait carrier. The usefulness of DNA gene analyses in family studies of hemoglobinopathy was discussed.
Hemoglobin 1985
PMID:Compound heterozygosity for two genotypes of alpha-thalassemia-2: hematological, biosynthetic and DNA studies. 403 Mar 79

The synthesis of adult-type hemoglobin was measured in small samples of peripheral blood cells from 9- to 18-week human fetuses. Hemoglobin indistinguishable from hemoglobin A was identified by ion-exchange chromatography, electrophoresis at pH 8.6, tryptic peptide analysis, and the insensitivity of its synthesis to the action of O-methylthreonine. Synthesis of hemoglobin A accounted for 8 to 14 percent of total hemoglobin synthesis and was demonstrated in as little as 10 microliters of fetal blood. These studies provide sensitive methods for the detection of beta chain types in hemoglobin synthesized by the human fetus at midtrimester. If methods to obtain small quantities of fetal blood at midtrimester become available, these techniques should be applicable to the antenatal detection of sickle cell anemia and related hemoglobinopathies.
 ...
PMID:Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester. 512 17

High pressure liquid chromatography (HPLC) has been used for the detection and quantitation of the beta chain variants Hb S and Hb C in blood samples of newborn babies with different hemoglobinopathies. The complete separation of the Hbs C, S, A, and F made it possible to diagnose conditions such as AS AC, SS, CC, SC and even S(C)-beta+ thalassemia. The procedure is fast (62 min) and ideally suited for the quantitation of Hb F at birth. Data for a few hundred cord blood samples indicate a great variability in the relative quantities of Hb S or Hb C in heterozygotes which prevents a definitive diagnosis of a simultaneously occurring alpha-thalassemia except perhaps of the homozygous form of alpha-thalassemia-2 (alpha o alpha/alpha o alpha). The large spread in the data also shows some overlap between the quantitative results in Hb S (or Hb C) heterozygotes and in babies with the Hb S (Hb C)-beta-thalassemia condition.
Hemoglobin 1982
PMID:Further studies on the quantitation of the hemoglobins A, S, C, and F in newborn babies with different hemoglobinopathies using high pressure liquid chromatography. 617 1

A 27 year old male with aplastic anemia developed a high fetal hemoglobin, a low hemoglobin A2, a decreased beta/alpha synthetic ratio, and an increased G gamma/A gamma synthetic ratio. This acquired hemoglobinopathy resembling delta beta-thalassemia was recognized at the onset of acute erythroleukemia. Certain features of this abnormal globin synthetic pattern resemble those of the normal fetus and thus appear to provide another example of gene expression by malignant cells resembling that of an earlier stage of the organism's development.
Hemoglobin 1983
PMID:Erythroleukemia manifesting delta beta-thalassemia. 618 18


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>