摘要:

An electrophoretically slowly moving hemoglobin variant, Hb Yusa, was found in a 48-year-old man, his younger sister and mother. No clinical or hematological abnormalities were seen in the individuals heterozygous for this mutant gene. Structural studies of this abnormal hemoglobin showed a new type substitution ofβ21(B3) Asp→Tyr. The percentage of the abnormal hemoglobin in the hemolysate was 40.8. The hemoglobin had neither instability nor functional abnormality.

ISSN:0363-0269    

DOI:10.3109/03630268108996918

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

摘要:

An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution ofα60 (E9) Lys→Glu.

ISSN:0363-0269    

DOI:10.3109/03630268108996919

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

摘要:

Twoγchain variants were discovered during a survey of 2,569 cord bloods of Japanese. One was the first case with mutation of the T-γ; chain, i. e. Hb F Yamaguchi orγ80 (EF 4) Asp→Asn (75 Thr, 136 Ala). It comprised 33.6 % of Hb F, an unusually high percentage for aγchain variant. The other concerned with the first report of substitution at E 16, i. e. Hb F Iwata orγ72 (E 16) Gly→Arg (75 Ile, 136 Ala). It comprised 11.0 % which is comparable to the values usually reported in an A-γchain variant. No clinical consequences have been observed in association with the hemoglobin variants.

ISSN:0363-0269    

DOI:10.3109/03630268108996920

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

摘要:

Two homozygousδ0β0-thalassemia patients, one with theGγAγtype and the other with theGγtype, and their heterozygous parents are described. Red cell indices among the heterozygotes with theGγAγtype ofδ0β0-thalassemia were markedly different from those in heterozygotes with theGγtype. However, the imbalance inin vitrohemoglobin synthesis was quite similar in the two heterozygous conditions. The same was observed for the homozygous patients; thein vitrochain synthesis was severely imbalanced as seen inβ-thalassemia major. The clinical and some of the hematological findings were milder in theGγ-δ0β0-thalassemia homozygote than in theGγAγ-δ0β0-thalassemia homozygote. The death of a sibling of theGγ-δ0β0-thalassemia homozygote with a diagnosis of thalassemia major suggests that both types ofδ0β0-thalassemia could follow a severe clinical and hematological course. The discovery of theGγtype ofδ0β0-thalassemia in a Turkish child shows that two types ofδ0β0- thalassemia can be found in that country. Differentiation between the two types can only be made through structural analyses of Hb F.

ISSN:0363-0269    

DOI:10.3109/03630268108996921

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

摘要:

We have investigated the use of anion exchange high performance liquid chromatography (HPLC) for hemoglobin analysis. Several gradient elution programs were developed for optimal separation of hemoglobins in hemolysates derived from newborns and from individuals with hemoglobin disorders. The high resolution achieved, coupled with the ability to carry out chromatographic analysis in an unattended mode including automatic quantitation of the separated hemoglobins indicate that this technique could be quite useful in meeting the need for efficient and accurate diagnosis of hemoglobin disorders.

ISSN:0363-0269    

DOI:10.3109/03630268108996922

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

摘要:

The relationship of hemoglobin stability to ligand state as defined by heat and mechanical shaking testsThe molecular stability of Hb Philly (α2β235 (C1) Tyr→Phe) with different ligand states was compared with that of Hb A and Hb S using mechanical shaking and heat stability tests. The rates of mechanical denaturation of the oxy-forms of these hemoglobins decreased in the order of Hb S, Hb Philly, and Hb A, with relative ratios of 9.5: 5.6: 1.0. Upon oxidation to the met-forms, Hb Philly became mechanically most unstable, with ratios of 13.3: 23.0: 1.8, respectively. The deoxy-forms of Hb A and Hb S were very stable, while that of Hb Philly was as unstable as the oxy-form. The addition of inositol hexaphosphate (IHP) to deoxy-Hb Philly stabilized the molecules. Since IHP restores the cooperative oxygen binding of Hb Philly, deoxy-Hb Philly appears to combine with IHP to change the quaternary structure required for cooperative oxygen binding and for stabilization of the molecule.Heat stability tests on Hb Philly showed that the oxy- and met-forms were slightly more unstable than those of Hb A, while the deoxy- and carbonmonoxy-forms were as stable as those of Hb A. Results for heat stability tests showed that hemoglobin molecules are stabilized when converted to the deoxy- or carbonmonoxy-forms so that oxidation of hemoglobin into the met-form is prevented. These results indicate that the stability of hemoglobin depends highly on its ligand state, and that the stability of various ligand forms should be tested when hemoglobin stability is investigated.

ISSN:0363-0269    

DOI:10.3109/03630268108996923

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268108996924

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268108996925

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268108996926

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268108996927

出版商:Taylor&Francis    

年代:1981

数据来源: Taylor