摘要:

High performance liquid chromatography has detected 14 abnormal hematological states in 600 randomly selected samples of blood. Two of these are silent mutations which are not apparent from chromatographic or electrophoretic examination. One of these has the substitutionα76 (EF5) Met→Thr and has been named Hb Aztec. The variant was first detected in a 9-day-old baby girl who had inherited it from her mother. This abnormal hemoglobin has no obviously deleterious effect or hematological status or health.

ISSN:0363-0269    

DOI:10.3109/03630268508997008

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

A new case of Hb Providence was discovered in a French Caucasian family presenting a mild polycythemia. Structural and functional studies of the two abnormal fractions (Hb Providence Asn and Asp) have been performed. These confirm the abnormal characteristics of Hb Providence described previously. Red cells containing Hb Providence were fractionated with a Percoll Albumin density gradient. The respective amounts of the two components were determined in the youngest and oldest cells. We observed a slight increase of Hb Providence Asp from 34 to 37% during the life span of the erythrocytes which confirms that the deamidation of Hb Providence Asn to Hb Providence Asp is a fast process, already present and close to its maximum, in the reticulocytes. Both abnormal components are stable in the presence of isopropanol.

ISSN:0363-0269    

DOI:10.3109/03630268508997009

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Two mouse hybridoma cell lines were isolated which produce monoclonal antibodies that bind hemoglobin S. The mice were immunized with peptide-protein conjugates to stimulate a response to the amino terminal peptide of the beta chain of hemoglobin S, where the single amino acid difference between A and S occurs. Immunocharacterization of the antibodies shows that they bind specifically to the immunogen peptide and to hemoglobin S. The specificity for S is high enough that one AS cell in a mixture with a million AA cells is labeled by antibody, and such cells can be analyzed by flow cytometry. Immunoblotting of electrophoretic gels allows definitive identification of hemoglobin S as compared with other hemoglobins with similar electrophoretic mobility.

ISSN:0363-0269    

DOI:10.3109/03630268508997010

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

A healthy 20-year-old woman, belonging to the Kgalagadi tribe of Botswana, has been found to possess a variant Haemoglobin A2as her only minor haemoglobin component. Fingerprinting and amino-acid analysis have shown that it is Haemoglobin A2′(δ16 Gly→Arg). The one parent available for study is heterozygous for theHbδA2′allele and the variant haemoglobin accounts for 3% of the total haemoglobin in the proband. It is reasoned that the proband is, therefore, homozygous for theHbδA2′allele. No haematological abnormalities were evident.

ISSN:0363-0269    

DOI:10.3109/03630268508997011

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Recent advances in molecular biology has resulted in the characterization of different forms ofα-thalassemia (α-thal). Deletion, or occasionally dysfunction, of one or bothαglobin genes, which are located on the short arm of chromosome #16 (l), will lead to anαchain deficiency with variable alterations in red cell indices.α-Thal-2 orαα/-αresults from deletion of one of the two a globin genes, i.e. either the leftward or 4.2 kb deletion involving theα2globin gene or the rightward or 3.7 kb deletion which involves the 3′segment of theα2gene, the 5′segment of the a1 gene and intergenic DNA.α-Thal-1 orαα/- results from larger deletions involving segments of DNA which contain both theα2 globin gene and (part of) theα1 globin gene. The various types are due to misalignment between two strands of DNA from two separate chromosomes during meiosis followed by an unequal crossover generating chromosomes with a single (or no) functional a globin gene or with triplicated a globin genes (2, and references quoted). Appropriate combinations of these chromosomes will lead to anα-thal-2 homozygosity (α-/α-), to Hb H disease (−/α-), to hydrops fetalis (- - / - -), and to genetic conditions such as those characterized by the presence of five (ααα/αα), four (ααα/α-) or three (ααα/−) a globin genes (2,3,4)

ISSN:0363-0269    

DOI:10.3109/03630268508997012

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268508997013

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268508997014

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268508997015

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268508997016

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268508997017

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor