摘要:

A modification of the acid elution procedure for the demonstration of fetal hemoglobin in red cells using fast green stain is described. This technique not only permits improved visual estimation of the amount of fetal hemoglobin in red cells, but allows for the direct quantitation of fetal hemoglobin content of individual cells, using a scanning and integrating micro-densitometer. As an application of this method, the distribution of fetal hemoglobin in populations of red cells of individuals was determined. Distributions were examined in sickle cell anemia patients with different proportions of fetal hemoglobin.

ISSN:0363-0269    

DOI:10.3109/03630267708996893

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

Chromatographic separation of labeled globin chains was performed on peripheral blood of 38 patients with homorygousβ-thalassemia. In 11 patients globin synthesis was also studied in bone-marrow cells. The results showedβ/αsynthetic ratios in the common range ofβ+-thalassemia (from 0.11 to 0.39) in 16 out of 27 Kurdish Jews (59%) and in ten out of 11 Arabs (91%). In nine Kurdish Jews (33%) and in one Arabβd`-thalassemia was found. In a few patients from the latter group a very small peak was detected in theβregion, which co-chromatographed withβ-chains from non-thalassemic individuals, but apparently represents synthesis of a non-globin protein. In two affected siblings, synthesis of small amounts ofβ-chains was demonstrated in peripheral blood (β/α0.018–0.025) and in one sample of bone-marrow cells (β/α0.046). These ratios are lower than any previously reported inβ+-thalassemia. Identification of the presumedβ-peak in these patients was based on an approximate tenfold increase inβ/α,γ/αandδ/αsynthetic ratios measured in hemoglobin isolated by gel filtration. In eight pairs of siblings synthetic ratios were almost identical.β/αandβ/αsynthetic ratios were higher in bone-marrow cells than in peripheral blood. In bone-marrow cellsγ-chain synthesis was lower, often resulting in a more marked chain inbalance (non-αversusα) than in peripheral blood particularly in patients withβd`-thalassemia.

ISSN:0363-0269    

DOI:10.3109/03630267708996894

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

摘要:

Routine hematology, DEAE-cellulose chromatography, and the technique ofin vitrosynthesis of hemoglobin chains were used to evaluate possible relationships between the quantities of theβchain variants Leslie, S, C, and N-Baltimore in heterozygotes, the hematological parameters, and the ratios of the synthesis ofαandβchains. Decreased quantities of all variants (except IIb. N-Baltimore) are associated with lowered MCV and MCH values and with nonα/αchain ratios between 1.2 and 2.4. Data from similar studies in 2–3 year old Hb S or Hb C heterozygotes who had about 5% Hb Bart's (γ4) at birth showed low percentages ofβchain variant (30% or less), decreased MCV and MCH values and an average nonα/αchain ratio of 1.79 for the AS children and of 1.73 for the AC children. Their mothers showed either similar deficiencies (2 of 8 cases) or were only mildly affected. These data are explained by assuming the presence of only one active a chain locus on each chromosoae (the -α/-αarrangement). This leads to a deficient a chain production resulting, among others, in microcytosis, decreased levels of (some)βchain variants, chain imbalance, but not in an overt anemia. Persons with the -α/ααarrangement (found in 6 of the 8 mothers) showed intermediate values.Studies of a large number of families showed a trimodality for the hemoglobins Leslie, S, and C which is readily explained by seeming the presence of a different number of active Hbαgene loci (average values for IIb S in heterozygotes with theαα/ααarrangement: 41.2%; with the -α/ααarrangement: 35.4%; with the -α/-αarrangement: 28.1%).The proposed genetic model is based on variation in a gene dosage and is different from that explaining the a thalassemia condition of the East Asian populations; mechanism responsible for the decreased percentages ofβchain variants in heterozygotes are discussed; some are presently under active investigation.

ISSN:0363-0269    

DOI:10.3109/03630267708996895

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267708996896

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267708996897

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267708996898

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267708996899

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267708996892

出版商:Taylor&Francis    

年代:1977

数据来源: Taylor