摘要:

Globin subunits may be elongated because of a base substitution in the termination codon, a crossover out of phase (frame shift) or a crossover in phase. This review presents structural, genetic, biosynthetic and clinical information on the eight variants having elongated chains which have been described to date.

ISSN:0363-0269    

DOI:10.3109/03630267808999185

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

In an attempt to estimate the prevalence ofβ0andβ+thalassemia genes in Greece chromatographic analysis of hemoglobins was performed in 30 children with homozygousβ-thalassemia prior to any transfusion. In 13 (43%) no HbA was detected, suggesting the presence ofβ0gene in the homozygous state (β0/βthal). In the remaining 17, HbA showed a bimodal distribution with values ranging from 4–36%. The detection of HbA suggests the presence ofβ+gene, while the bimodal distribution could be explained by the assumption that theβ+gene in single dose and in combination withβ0gene (β0/β+thai) results in the production of small amounts of HbA ranging from 4–11%, (first curve), while in double dose (β+/β+thal), in the production of higher amounts of HbA ranging from 24–36% (second curve). Theβ0/β+thai was observed in 11 (37%), and theβ+/β+thai in 6(20%). It is concluded that bothβ0andβ+genes are common in Greece and chromatographic analysis helps to determine the genotype of patients with homozygousβ-thalassemia.

ISSN:0363-0269    

DOI:10.3109/03630267808999186

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

An electrophoretic fast-moving hemoglobin was found in a Cuban family of Spanish descent.Structural studies demonstrated a replacement of arginine by glycine atα141 (HC3). This change is not associated with clinical symptoms, although the substitution is in one of the residues involved in the stabilization of the deoxy form of the hemoglobin molecule.

ISSN:0363-0269    

DOI:10.3109/03630267808999187

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999188

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999189

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999190

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999191

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999192

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267808999193

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

Hemoglobin Hopkins-2 was originally reported to contain two abnormalαchains. Both had aspartic acid instead of the normal histidine at positionα112; the second a chain also contained two additional amino acid substitutions. In subsequent reports of the structure of this hemoglobin, only the His→Asp substitution was found. To determine whether the second abnormal a chain was limited to the original kindred, the structure of their hemoglobin was redetermined. Only the His→Asp substitution was present.

ISSN:0363-0269    

DOI:10.3109/03630267808999194

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor