mRNA analysis in reticulocytes of subjects with Hb D, Hb Porto Alegre, Hb E, and different types of unstable hemoglobin variants
✍ Scribed by Smetanina, N. S.; Huisman, T.H. J.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 662 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0361-8609
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✦ Synopsis
Using a reverse transcription-polymerase chain reaction (RT-PCR) technique we determined the a2/al, d p , and ylp mRNA ratios in reticulocytes of 11 patients with seven different unstable p chain variants, of 4 patients with two unstable a chain variants, in hemoglobin (Hb) D, Hb Porto Alegre, and Hb E heterozygotes, and in 8 patients with Hb X-po-thalassemia (thal) (three D-po-thal, one Porto Alegre-po-thal, one Lulu Island-pO-thal, and three E-po-thal). In addition, we determined the pXlpA mRNA ratios (X = unstable) in some Hb D heterozygotes and in 6 subjects with an unstable p chain variant. Normal d p and pX/pA mRNA ratios were found in all heterozygotes tested, indicating that the respective mutations did not alter the stability of the mRNAs. The d p mRNA ratio in four Hb E heterozygotes averaged 4.21 (normal, 4.47), and that in 2 patients with Hb E-po-thal and four a-globin genes (cudaa) averaged a high 22.4. The y mRNA level in the Hb E heterozygotes was 4% but varied greatly in patients with Hb E-po-thal; the d ( y + p) mRNA ratios in the 2 patients were 15.5 and 16.7, respectively. The large differences in d p and d ( y + p) mRNA ratios in reticulocytes of subjects with AE and with E-po-thal may be due to differences in the levels of normally-spliced pE and abnormally-spliced pE mRNAs. Only the latter is unstable and is preferentially produced in bone marrow and reticulocytes of Hb E-po-thal patients, where it is rapidly degraded. D 1996 Wiley-Lios, tnc.