摘要:

An abnormal hemoglobin was suspected in a 70-year-old Japanese male with cerebral infarction and erythremia with high performance liquid chromatography assay of Hb A1c. The hemoglobin variant migrated to the anode more rapidly than Hb A. Structure determination studies, including amino acid analysis of the abnormal pep-tide and DNA sequencing of a partially clonedα-globin gene, demonstrated that it is a new hemoglobin variant which has been named Hb Kanagawa [α40(C5)Lys→Met]. This variant showed an increased oxygen affinity, decreased heme-heme interaction, and a lowered 2,3-diphosphoglycerate effect relative to normal.

ISSN:0363-0269    

DOI:10.3109/03630269209005670

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Hb Turriff is a new hemoglobin variant which we have identified in a diabetic individual. During the determination of Hb A by high performance liquid chromatography, an inappropriately elevated result was found to be due to the abnormal hemoglobin chromatographing with the Hb A1cfraction. This new hemoglobin variant, Hb Turriff [α99(66)Lys→Glu), is not associated with any hematological disturbance, and family investigations indicate that it has arisen as a de novo mutation.

ISSN:0363-0269    

DOI:10.3109/03630269209005671

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith orα2β242(CD1)Phe→Ser. Her parents were normal. Identification was greatly facilitated by the use of reversed phase high performance liquid chromatography for the isolation of theβXchain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)ŤT(Ser) mutation at codon 42.

ISSN:0363-0269    

DOI:10.3109/03630269209005672

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Hb City of Hope [β69(E13)GLY→SER] was detected by reversed phase high performance liquid chromatography in an asymptomatic carrier from Naples, Southern Italy. The amino acid substitution, identified by fast atom bombardment mass spectrometry, was due to a TGG→TGAsubstitution as assessed by DNA sequencing. Analysis of the chromosomal background indicates that the globin gene cluster containing the mutant gene has most probably been rearranged by a recombination event, since the mutation was associated with restriction fragment length polymorphism haplotype IX, instead of haplotype I, as previously reported.

ISSN:0363-0269    

DOI:10.3109/03630269209005673

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Hb Rancho Mirage was detected in a 17-year-old male in association with a mild anemia. Hemoglobin electrophoresis revealed the variant had a mobility between Hbs A and J on cellulose acetate (pH 8.6) and a mobility like Hb F on citrate agar (pH 6.4). A substitution of His→Asp was found at position 143 in theßchain, a residue that contributes to the anionic 2,3-DPG binding site in Hb. This variant exhibited normal oxygen affinity at physiologic pH and reduced affinity at alkaline pH. This suggested a subtle shift in the allosteric equilibrium due most likely to the introduction of a negative charge that stabilized the 2,3-DPG pocket. Both homotrophic (heme-heme) and heterotropic (2,3-DPG and protons) effects were reduced; this might be a consequence of an alteration in the carboxyl terminal region of theß-subunits. Although a His→Asp substitution would be considered to cause reasonable disruption of the 2,3-DPG and C-terminal conformation of theß- subunits, the properties of Hb Rancho Mirage suggest that, in fact, there appear to be no major perturbation of the critical C-terminal residues.

ISSN:0363-0269    

DOI:10.3109/03630269209005674

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Three primers were designed, one specific forα1-globin DNA, a second forα2-globin DNA, and a third that is common for bothα1- andα2-globin DNA. These three primers can be applied for selective amplification of the two globin DNA fragments, which is useful for identification of nondeletional types of Hb H disease. Fifty-nine DNA samples of Hb H patients from Guangxi were studied by selective amplification, and 27 cases (45.8%) were confirmed as nondeletional types. Of these, 22 (81.5%) had the Hb Constant Spring (CS) mutation and one had the Hb Quong Sze (QS) mutation; both were identified by hybridization with synthesized oligonucleotide probes. Nondeletional Hb H disease in Guangxi seems to be more severe than the deletional types. The average hemoglobin level of the nondeletional Hb H/CS (-/αα) is 6.8 g/d1, which is lower than that of the deletional types (7.9 g/d1), while the levels of Hb H and Hb Bart's were much higher in the patients with Hb H/CS than in those with the deletional types.

ISSN:0363-0269    

DOI:10.3109/03630269209005675

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

We have identified theβ-thalassemia mutations in 59 patients with thalassemia major and 47 patients with Hb E-β-thalassemia, and the deletional and nondeletionalα-thalassemia determinants in 23 out of 24 patients with Hb H disease. All persons were attending the Haematology Clinic at the National University of Malaysia in Kuala Lumpur (Malaysia). Most patients (76) were of Malay descent, while 52 patients were Chinese, and two came from elsewhere. The most frequently occurringβ-thalassemia alleles among the Malay patients were IVS-I-5 (G→C) and G→A at codon 26 (Hb E), while a few others were present at lower frequencies. The Chinese patients carried the mutation characteristic for Chinese [mainly codons 41/42 (-TTCT) and IVS-II-654 (C→T)]; Malay mutations were not observed among Chinese and Chinese mutations were virtually absent in the Malay patients. The large group of patients with Hb E-β-thalassernia and differentβ-thaiassemia alleles offered the opportunity of comparing hematological data; information obtained for patients with Hb E-β-thalassemia living in other countries was included in this comparison. Twenty-three patients with Hb H disease carried the Southeast Asian (SEA)α-thalassemia-1 deletion; 13 had theαcsα(Constant Spring) nondeletionalα-thalassemia-2 determinant, while the deletionalα-thalassemia-2 (-3.7 or -4.2 kb) was present in 10 subjects. The -/αCSαcondition appeared to be the most severe with higher Hb H values. Both deletional and nondeletional types ofα-thalassemia-2 were seen among Malay and Chinese patients.

ISSN:0363-0269    

DOI:10.3109/03630269209005676

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269209005677

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269209005678

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269209005679

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor