摘要:

This is the first report in the English literature of the birth of an obligate SS infant whose parents both had sickle cell anemia. The young adult SS parents of this infant and their families did not wish to prevent the birth of this child but had, in fact, many positive reasons to continue the pregnancy to term even in the face of the increased personal risk of pregnancy for this mother. This unusual circumstance initiated a re-appraisal of the realistic expectations with respect to reproduction in patients with homozygous recessive genetic disorders. No definitive studies could be found wllich attempted to evaluate the influence of genetic counseling on reproductive behavior in patients with sickle cell anemia. The questions raised abut the‘right to reproduce’and the realistic aims of genetic counseling in adult homozygote patients have been discussed. However, no conclusions seem warranted because of the paucity of available information.

ISSN:0363-0269    

DOI:10.3109/03630267709027859

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

Hemoglobin Arlington Park was detected accidentally as result of the use of a tiemolysate which contained hemoglobin with normal electrophoretic mobility as a control for peptide mapping. Peptide maps of this hemolysate revealed 3 new peptldes resulting from 2 amino acid substitutions to give a new variant with the composition (B6 GlwLys, 95 Lys→Clu).

ISSN:0363-0269    

DOI:10.3109/03630267709027860

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

The comparative mobilities, in citrate agar electrophoresis, of 91 mutant hemoglobins are presented in relation to their molecular structure and in some cases, to their mobilities in other types of electrophoresis. More than a third of theachain mutants (11 of the 27 examined) and half of theβchain mutants (29 of 55) differ to some extent from Hb A. The helical location of the substituted residue is an important determinant of hemoglobin mobility. which is also affected by a complex interplay of other factors. When the data are combined with those of several other types of electrophoresis, they often provide presumptive (or in some cases highly specific) identifications of mutant hemoglobins and hemoglobinopathies.

ISSN:0363-0269    

DOI:10.3109/03630267709027861

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

A test tube method for quantitation of Hb A2which is an adaption of the microcolumn chromatographic method is described. The method uses microgranular DEAE cellulose (DE 52, microgranular and preswollen, Whatman Inc.) equilibrated with a0.2M glycine-0.1 KCN solution, pH 7.25. Hemoglobin A and F become bound to the resin while Htr A2is in the supernatant fraction allowing its quantitation. The method is simple, rapid, inexpensive and accurate, and allows one technician to determine the level of Hb A2in at least 50 samples a day. The method can be used with whole blood, hemolysates and blood collected on filter paper.

ISSN:0363-0269    

DOI:10.3109/03630267709027862

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

Hemxglobin Karatsu was disoovered in a Japanese male during a random survey of patients. Fingerprints of aminoethylatedβchain revealed an hmlβTp12B-13 spot. Further chemical analyses and canparison with the corresponding tryptic pptide from Hb Hijiyama dmnstrated an identical amino acid substitution with Hb Riyadh.

ISSN:0363-0269    

DOI:10.3109/03630267709027863

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

A hitherto undescribed, unstable hemoglobin was discovered in a four-year-old Japanese girl with relatively severe hemolytic anemia requiring monthly blood transfusion Although no abnormal hemoglobin was detectable by electrophoresis at pll 8.6 and 7.0, heat denaturation and isopropanol tests gave positive results.Chemical analyses of the heat labile henioglohin have demonstrated an amino acid substitution of a prolyl for the leucyl residue at the 68th (E 12) position.Remarkable clinical improvement was observed after splenectomy.

ISSN:0363-0269    

DOI:10.3109/03630267709027864

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

This paper describes a method for isolating high oxygen affinity hemoglobins. It involves the selective derivatisation of the cysteine residue at. position 93 in theβchain. The iodoacetamide derivative of the high oxypn affinity hemoglobin was separated from the more negatively charged iodoacetic acid derivative of HbA on DEAE-Sephadex. The method was used to isolatp two high oxygen affinlty hemoglobins,oneof which was subseqrtmtly identified as llb Heathrow.

ISSN:0363-0269    

DOI:10.3109/03630267709027865

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

We have previously described the structural identification of the sickle hemoglobin variant Hb C Ziguinchor (α2Aβ2 6 Glu→Val, 58 Pro→Arg). This hemoglobin was found in two generations (three members) of an African family. In two family members, the clinical picture resembled that typical of A sickle cell trait, while the third member showed a more extreme clinical condition due to complication by an iron deficiency anemia. The functional properties of llb C Zig. in red blood cells or in dilute solutions were identical to those of tib S. The gelling behaviour of deoxy Hb C Zig. was also indistinquishable from that of Hb S. These findings suggest that, in contrast to the cast of Ilb C Ilarlem, the second substitution in position P58 in tlb C Zig. does not interfere with the intrrmolecular interactions determined by the sickle substitution.

ISSN:0363-0269    

DOI:10.3109/03630267709027866

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267709027867

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267709027868

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor