摘要:

The structure, properties, genetics, and clinical and biochemical expression of hemoglobins Lepore (δβ) and anti-Lepore (βδ) are described. In addition to the three Lepore variants (Lepore Hollandia, Lepore Baltimore and Lepore Washington) at least four anti-Lepore variants (Miyada, P Nilotic (P Congo), Coventry and Lincoln Park) are known at the present time. All known hemoglobins Lepore and anti-Lepore are products of non-homologous crossing-over between theδand theβgenes. Although the Hb Lepore condition is expressed phenotypically and clinically asβthalassemia, the presence of about 10% of Hb Lepore distinguishes the condition hematologically fromβthalassemia. Data on the hematological and biochemical expression of this hemoglobinopathy are presented. In contrast to the anemia in the Lepore condition, there is no phenotypic evidence of thalassemia in persons with hemoglobin anti-Lepore, because noβchain deficiency accompanies the latter condition. Although no adequate explanation has been advanced concerning the factors which maintain a low synthesis of the Lepore and anti-Lepore chains, it has been suggested that multiple rare codons may introduce rate-limiting steps or that theδβandβδmRNAs may be unstable. Data on the geographical distribution and structural identification of Hb Lepore are presented.

ISSN:0363-0269    

DOI:10.3109/03630267809007068

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

An electrophoretically G-like hemoglobin variant, Hb Hoshida, was detected from a ten year old girl and her mother. No clinical and hematological abnormalities were seen in the individuals heterozygous for this mutant gene. Structural studies of this abnormal hemoglobin demonstrated a previously undescribed substitution ofβ43 (CD-2) Glu→Gin. The proportion of the abnormal hemoglobin in hemolysate was 42,1 per cent. The hemoglobin revealed neither instabilities nor functional abnormalities.

ISSN:0363-0269    

DOI:10.3109/03630267809007069

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (northern Italy) affected with renal failure and iron deficiency anemia, not related to the presence of the Hb variant. Structural studies have demonstrated a previously undescribed amino acid substitution,α141 Arg→Leu. This new variant has been named Hb Legnano, and is characterized by an increased oxygen affinity and a low cooperativity, at least as far as preliminary functional studies carried out on whole blood have indicated. Family studies are reported: three other heterozygous carriers were observed among the relatives of the propositus, all showing a mild polycythemia which, however, does not seem to produce appreciable clinical consequences.

ISSN:0363-0269    

DOI:10.3109/03630267809007070

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

o-lodobenzoate interacts non-covalently with hemoglobin and lowers the oxygen affinity of the protein. In contrast to2,3diphosphoglycerate or inositol hexaphosphate, its interaction does not depend upon the presence of free amino groups at theβ-chain amino terminals. Lysineβ82 is one of its oxygenation linked binding sites. As with the organic phosphates, the halogenated benzoate reacts preferentially with deoxy-hemoglobin to shift the allosteric equilibrium from R to T.

ISSN:0363-0269    

DOI:10.3109/03630267809007071

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267809007072

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267809007073

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267809007074

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor