Abstract:
:Globin chain synthesis and globin mRNA content were studied in blood cells of a patient homozygous for Hb Lepore. Peripheral blood cells incubated with tritiated leucine synthesized approximately 1.5 to 3% as many Lepore globin chains as alpha chains. Globin mRNA in peripheral blood cell RNA was assayed by molecular hybridization assays using human alpha and beta cDNA, and the results indicated the presence of approximately 1% to 2% as much beta-like mRNA (presumably deltabeta Lepore mRNA) as alpha mRNA. The amount of Lepore deltabeta chain mRNA in peripheral blood cells is therefore proportional to the amount of Lepore globin chain synthesis in the same cells. An incidental observation was the finding that peripheral blood cell RNA of this patient, at a time when she was being heavily transfused, contained substantially higher levels of beta-like mRNA (relative to alpha mRNA) than in subsequent studies. Cell-free translation of this mRNA however revealed that it contained authentic beta chain mRNA which must have been derived in some way from the transfused blood cells.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Forget BG,Cavallesco C,Benz EJ Jr,McClure PD,Hillman DG,Krieger H,Clarke B,Housman Ddoi
10.3109/03630267809074779subject
Has Abstractpub_date
1978-01-01 00:00:00pages
117-28issue
2eissn
0363-0269issn
1532-432Xjournal_volume
2pub_type
杂志文章相关文献
HEMOGLOBIN文献大全abstract::Red cell adenosine deaminase from normal subjects and from a patient with hereditary hemolytic anemia with a 40-fold increase in activity were purified using antibody affinity chromatography. The purified enzymes were completely homogeneous on sodium dodecyl sulfate-polyacrylamide gel electrophoresis. There were no di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268008997738
更新日期:1980-01-01 00:00:00
abstract::Hb Brest [beta 127 (H5)Gln----Lys] is a new unstable variant located at the alpha 1 beta 1 interface at the same position as Hb Complutense [beta 127(H5)Gln----Glu]. In each of these, the substitution produces a distinct alteration in charge, yet both variants move with Hb A in conventional electrophoresis. This pecul...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268808998024
更新日期:1988-01-01 00:00:00
abstract::To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-f...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600868006
更新日期:2006-01-01 00:00:00
abstract::Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 +/- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modificati...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-100103070
更新日期:2001-02-01 00:00:00
abstract::High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the β-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocyto...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1680382
更新日期:2019-01-01 00:00:00
abstract::A study of the spectrum of beta-thalassemia mutations in the southern part of the West Bank of the Palestinian Authority revealed the presence of 10 different beta-globin mutations. The study included 41 patients and 54 carriers of beta-thalassemia and sickle cell anemia. The spectrum of mutations observed was typical...
journal_title:Hemoglobin
pub_type: 历史文章,杂志文章
doi:10.1081/hem-120002938
更新日期:2002-02-01 00:00:00
abstract::Sickle cell disease is an inherited hemoglobinopathy with multi system complications. It has been associated with multiple maternal complications. A retrospective review of 68 consecutive pregnant women with sickle cell disease, followed in a tertiary center, was conducted over 5 years, to estimate the incidence of di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.780249
更新日期:2013-01-01 00:00:00
abstract::High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, however, various disorders including alteration of δ chains may result in decreased production of Hb A2, thus hindering the...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1831531
更新日期:2020-11-01 00:00:00
abstract::Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant alpha- and beta-globin alleles contributes to the complexity in di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260601059225
更新日期:2007-01-01 00:00:00
abstract::Population surveys performed in different Brazilian ethnic groups, and comprising 23,606 subjects, disclosed, besides the common S and D types, hemoglobins G and Por to Alegre, as well as high F, A'2 and an apparently unstable A2 variant. Additional studies on isolated families revealed the occurrence of hemoglobins I...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268208996940
更新日期:1982-01-01 00:00:00
abstract::Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelate...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/01676830.2010.525900
更新日期:2010-01-01 00:00:00
abstract::We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhoo...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1766485
更新日期:2020-03-01 00:00:00
abstract::We report a newborn with a compound heterozygosity for Hb O-Arab (HBB: 364G>A) and Hb D-Los Angeles (HBB: 364G>C). To the best of our knowledge, the combination of these two hemoglobin (Hb) variants has not been identified and reported before. The variants of the proband and parents were identified by high-performance...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1710530
更新日期:2020-01-01 00:00:00
abstract::Building on the pioneering efforts of Professor Huisman, several different databases of hemoglobin variants have been developed, each with progressively increased capacity for sophisticated queries and prompt updating. These resources are reviewed in the context of a larger plan for providing related resources on hemo...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.1081/hem-100104027
更新日期:2001-05-01 00:00:00
abstract::Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidan...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600642575
更新日期:2006-01-01 00:00:00
abstract::The effects of 2, 3-diphosphoglyceric acid (2, 3-DPG), adenosine triphosphate (ATP), inositol tetraphosphate (ITP), inositol pentaphosphate (IPP), and inositol hexaphosphate (IHP) on oxygen affinity of whole stripped hemoglobin (WSH), hemoglobin H (Hb-H; hatching hemoglobin), hemoglobin A (Hb-A), and hemoglobin D (Hb-...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267709003422
更新日期:1977-01-01 00:00:00
abstract::Hemoglobinopathies exhibit a remarkable phenotypic diversity in terms of disease severity, while individual genetic background plays a key role in differential response to drug treatment. In the last decade, genomic variants in genes located within, as well as outside the human β-globin cluster have been shown to be s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1597732
更新日期:2019-01-01 00:00:00
abstract::Two new families with red cell pyrimidine 5'-nucleotidase (P5N) deficiencies were found in Japan. The enzyme activities were 4.8% in case 1 and 9.7% in case 2. The propositi showed characteristic hemolytic anemia with market basophilic stippling, increased reduced glutathione content and accumulation of pyrimidine nuc...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268008997737
更新日期:1980-01-01 00:00:00
abstract::Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an acceler...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269908996157
更新日期:1999-05-01 00:00:00
abstract::We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA > TTA (HBA2: c.428A > T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1008137
更新日期:2015-01-01 00:00:00
abstract::β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical remova...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1029588
更新日期:2015-01-01 00:00:00
abstract::Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the coll...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260903089177
更新日期:2009-01-01 00:00:00
abstract::Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigat...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1783287
更新日期:2020-05-01 00:00:00
abstract::Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2017.1414058
更新日期:2017-01-01 00:00:00
abstract::Two kinds of 3-hydroxypyridine-2(1H)-thiones were synthesized. The visible (VIS) spectroscopic analysis indicated that 3-hydroxy-1-methylpyridine-2(1H)-thione (4a) and 3-hydroxy-1-(2-hydroxyethyl)pyridine-2(1H)-thione (4b) formed stable 3:1 Fe(III) complexes. The stability constant of the 4b-Fe(III) complex was estima...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260500455342
更新日期:2006-01-01 00:00:00
abstract::We studied the structural environment surrounding the beta-N-terminal glycation site of a hemoglobin (Hb) molecule in which the proline residue at beta5(A2) was substituted by alanine in silico. By computer analysis that used Protein Data Bank data (PDB ID: 1BZ0), we tried to clarify the reason for impaired glycation ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630261003676785
更新日期:2010-01-01 00:00:00
abstract::The unusual combination of haemoglobins S and E was found in two Saudi Arab siblings. The father was homozygous for HbE and the mother was heterozygous for HbA and HbS. Clinical and laboratory findings are presented and compared with those of the six cases of HbSE heterozygosity previously reported. The significance o...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268508996981
更新日期:1985-01-01 00:00:00
abstract::The limitations of current therapies for the treatment of iron overload or radioisotope contamination have stimulated efforts to develop new orally bioavailable iron and actinide chelators. Siderophore-inspired tetradentate, hexadentate and octadentate terephthalamidate and hydroxypyridonate ligands were evaluated in ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2011.560771
更新日期:2011-01-01 00:00:00
abstract::The major defect in α-thalassemia (α-thal) is a single or double gene deletion. The aim of this study was to evaluate the α-thal mutations in two provinces of Southern Iran, Fars & Kohkeloye and Bouyer Ahmad. A total of 2000 subjects with microcytic hypochromic anemia was selected as a study group; finally, 1177 subje...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.657729
更新日期:2012-01-01 00:00:00
abstract::The problem of spinal cord compression (SCC) related to extramedullary hematopoiesis (EMH) in beta-thalassemia (beta-thal) patients, both clinically and radiologically and its correlation with laboratory parameters of anemia and hemosiderosis was assessed. Sixty beta-thal patients were included and divided into group ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260903337451
更新日期:2009-01-01 00:00:00