摘要:

A new a chain hemoglobin variant, Hb Hobart,α20(Bl)His→Arg, was detected in a 60-year-old female of British nationality. The proposita had a history of severe rheumatoid arthritis and had been treated for many years for a refractory microcytic anemia and/or iron deficiency. A hemoglobin electrophoresis screen indicated the presence of a hemoglobin variant, with electrophoretic characteristics similar to a Hb Lepore. However, the level of the variant (17.9%) and the presence of a minor variant Hb A2 band (0.4%) suggested that further investigation was indicated.The variant hemoglobin was purified by column chromatography and the a chain subjected to aminoethylation and tryptic digestion. Peptide mapping and amino acid analysis indicated that the histidine residue 20 had been substituted by an arginine residue.The substitution in Hb Hobart is at the first residue in the B Helix of theαchain of hemoglobin. As this is an externally placed amino acid in the hemoglobin molecule, a substitution at this position of the hemoglobin molecule would not be expected to cause any functional problems.A family study has shown that at least three other relatives are heterozygous for Hb Hobart. These family members have normal hematological findings.

ISSN:0363-0269    

DOI:10.3109/03630268709017887

出版商:Taylor&Francis    

年代:1987

数据来源: Taylor

摘要:

Hb J-Auckland is a new hemoglobin variant with the amino acid substitutionβ25(B7)Gly→Asp. It is mildly unstable and has a low oxygen affinity. The propositus and a son, both heterozygous for Hb J-Auckland, have marginally low Hb values but no apparent clinical symptoms.

ISSN:0363-0269    

DOI:10.3109/03630268709017888

出版商:Taylor&Francis    

年代:1987

数据来源: Taylor

摘要:

In nine Indian patients ranging in age between four and 61 years, with mild Hb SS disease and very high Hb F levels, theGγglobin chain levels of their fetal hemoglobin ranged between 64.0% and 70.0%, with a mean of 68.1% (S.D.±2.6) of the total amount ofγ-globin chains. Eight of the nine patients were homozygous for a specificβsgene haplotype #31. The other one was doubly heterozygous for the same specific haplotype and another haplotype, which differed from haplotype #31 by the presence of Bam HI site 3' to theβgene and absence of Pvu II site 5' to theψβgene. Theβgene organization studied by Pst I restriction enzyme analysis was found to be normal and the Xmn I site -158 5' toGYβgene was present in all patients examined.

ISSN:0363-0269    

DOI:10.3109/03630268709017889

出版商:Taylor&Francis    

年代:1987

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268709017890

出版商:Taylor&Francis    

年代:1987

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268709017891

出版商:Taylor&Francis    

年代:1987

数据来源: Taylor