Haemoglobin synthesis in thalassaemia

Weatherall, D. J.; Clegg, J. B.

doi:10.1042/bj1190068pb

Cited by 92 publications

(173 citation statements)

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“…A 2 ml VenePuncby hypochromic, microcytic red cells, an increased proportion of ture, or occasionally a heel prick sample, was taken into EDTA. Hb A2 and normal or slightly elevated amounts of Hb F (azyz), as Hematologic Parameters were n~easured on a Coulter k ca result of the deficit in P chain production (30). This deficit is tronic cell counter.…”

Section: Discussionmentioning

confidence: 99%

“…This deficit is tronic cell counter. Hemoglobin analysis was carried Out by starch also expressed in fetal life (allowing antenatal diagnosis of the gel electrophoresis in a tris-EDTA-borate buffer pH 8.6 (30). Hb disease); however, the proportion of p chain synthesis is so low it A2 was quantitated after electrophoresis and elution from cellulose has little effect on the red cells, and these characteristic changes acetate mxnbranes (30) while Hb F was measured by an alkali only become apparent when Hb A (a&) production replaces Hb denaturation technique (25 Tables 1 and 2 for the various time points examined may be important to be able to distinguish between P thalassemia and these changes are illustrated in Figures 1-3.…”

Section: Discussionmentioning

confidence: 99%

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Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

et al. 1982

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SummaryWe have studied the hematology and hemoglobin patterns of normal and heterozygous j3 thalassemia infants in serial samples obtained during the first year of life. The hemoglobin level, mean cell volume and mean cell hemoglobin were significantly lower in the j3 thalassemia traits by the age of 3 months and this difference was maintained throughout the first year. Hb A2 levels were significantly higher in the j3 thalassemia group but increased in both groups throughout the first year. Hb F levels were also higher in heterozygotes for j3 thalassemia at all ages, showing a delay in the postnatal decline. Speculation pregnant women who were heterozygotes for P thalassemia. Those women whose husbands were shown not to carry the j 3 thalassemia gene were approached at delivery for permission to carry out blood sampling of their offspring at 3 monthly intervals after birth. In this way data on heterozygous P thalassemia children and an equal number of normal children could be obtained in an unbiased manner.The majority of these women were of Cypriot origin. In addition one patient each of Italian, Indian, Chinese and West Indian origin were included in the study.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

et al. 1982

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“…It is generally believed that f3-thalassemia assumes a high frequency because the gene provides protection against malaria (32). Hence the diversity in the Sardinian /8-thalassemia haplotypes must have occurred over the past few thousand years with the introduction of malaria.…”

Section: Discussionmentioning

confidence: 99%

The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.

Pirastu¹,

Galanello²,

Doherty³

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

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The predominant P-thalassemia in Sardinia is the P9 type in which no P-globin chains are synthesized in the homozygous state. We determined the (3-thalassemia mutations in this population by the oligonucleotide-probe method and defmed the chromosome haplotypes on which the mutation resides. The same 39(CAGTAG) nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the ,3-globin gene region.The DNA sequences along the human ,B-globin cluster are highly polymorphic; over 20 polymorphic restriction endonuclease sites along this 60-kilobase (kb) region of DNA have been described (1).

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“…In adult life, excess globin chains form 4 tetramers of HbH in the cell and these can be identified by staining the peripheral blood with 1% brilliant cresyl blue (BCB) (36)(37)(38), or when present in sufficient quantity by routine Hb analysis (36,39). Previously alpha thalassaemia was confirmed by globin chain biosynthesis, when the alpha/ globin chain biosynthesis ratio was reduced to less than ~0.8 (40)(41)(42)(43)(44).…”

Section: Definition/diagnostic Criteriamentioning

confidence: 99%