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The gamma chain heterogeneity of fetal hemoglobin in black beta- thalassemia and HPFH heterozygotes
| Content Provider | Scilit |
|---|---|
| Author | Huisman, Th Gravely, Me Webber, B. Okonjo, K. Henson, J. Reese, Al |
| Copyright Year | 1981 |
| Abstract | High pressure liquid chromatography (HPLC) was applied to the HbF isolated from blood of numerous black patients with beta-thalassemia trait or homozygosity, G gamma-delta beta-thalassemia trait, G gamma A- gamma HPFH heterozygosity, or the G gamma-[delta+ beta+]-HPFH condition. The method allowed an accurate evaluation of the relative quantities of three types of gamma-chain (G gamma, A gamma I, A gamma T) in the fetal hemoglobins. The results have shown the following. (A) The incidence of the A gamma T-chain in beta-thal heterozygotes and G gamma A gamma-HPFH heterozygotes is about the same as has been observed in black newborn; about one of five blacks are heterozygous for this A gamma-chain variant. The A gamma T-chain was not detected in the nine G gamma-delta beta-thal heterozygotes nor in the eight G gamma-[delta+ beta+]-HPFH heterozygotes. (B) In most cases, the A gamma T-chain was produced by the A gamma gene in trans to the beta-thal or HPFH determinant. The contribution by the gamma-chain genes in trans to the beta-thal or HPFH determinant is about 15% of the total gamma-chain production in both conditions. (C) Three black beta-thal heterozygotes (and five additional relatives) had the A gamma T gene in cis to the beta-thal determinant. Four of these patients had a low levels of G gamma-chain (the “adult” level), and the contribution by the A gamma gene in cis to the beta-thal determinant was about three times that of the A gamma gene in trans. The four additional patients, all members of one family, had a high level of G gamma-chain (the “newborn” level), and the contribution of the A gamma gene in cis was half of that seen in the previously mentioned four patients while that of the A gamma gene in trans was essentially the same. These limited data suggest that the genetic anomaly causing high high G gamma levels in adult beta-thal heterozygotes is linked to the beta-thal determinant and that one of its primary effects is a decreased synthetic expression of the A gamma gene in cis to the beta-thal determinant. |
| Related Links | https://ashpublications.org/blood/article-pdf/58/1/62/208698/62.pdf |
| Ending Page | 70 |
| Page Count | 9 |
| Starting Page | 62 |
| DOI | 10.1182/blood.v58.1.62.bloodjournal58162 |
| Journal | Blood |
| Issue Number | 1 |
| Volume Number | 58 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1981-07-01 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Thalassemia Gamma Chain Hpfh Beta Thal Heterozygotes Black Beta Journal: Blood (Vol- 3, Issue- 1) |
| Content Type | Text |
| Resource Type | Article |
