Observations on the levels of Hb A2 in patients with different beta- thalassemia mutations and a delta chain variant
| Autor: | H.-W. Li, J. F. Codrington, Titus H.J. Huisman, L-H. Gu, Ferdane Kutlar, M. Ramachandran |
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| Rok vydání: | 1990 |
| Předmět: | |
| Zdroj: | Blood. 76:1246-1249 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v76.6.1246.bloodjournal7661246 |
| Popis: | Hb A2 and its variant B2 (alpha 2 delta 2(16)(A13)Gly----Arg) were quantitated in the blood of subjects with three different types of beta- thalassemia and with the delta-B2 anomaly in cis or in trans to the beta-thalassemia determinant. In one family, the delta-B2 mutation was in cis to a newly discovered codon 47 (+A) frameshift. The levels of Hbs A2 and B2 were nearly the same and approximately 70% higher than those in simple Hb B2 heterozygotes. In two additional families, the delta-B2 variant was in trans to either a deletional beta-thalassemia (1,393 bp) involving part of the beta-globin gene and part of the beta- globin gene promoter, or to the -88 C----T promoter mutation. In both instances, the Hb B2 level was increased by approximately 80%, but the Hb A2 level was increased by approximately 270% and 200%, respectively. These data indicate two mechanisms that will cause an increase in delta chain production. One is consistent with a general mechanism concerning the relative excess of alpha chains in beta chain deficiencies which will combine with delta chains to form variable levels of Hb A2 dependent on the severity of the beta chain deficiency. The second concerns the loss of beta-globin gene promoter activity, perhaps by an absence of (or decreased) binding of specific protein(s) to this segment of DNA and a concomitant increase in delta-globin gene promoter activity in cis. |
| Databáze: | OpenAIRE |
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