| Autor: |
Fucharoen, Supan, Pengjam, Yutthana, Surapot, Satja, Fucharoen, Goonnapa, Sanchaisuriya, Kanokwan |
| Předmět: |
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| Zdroj: |
European Journal of Haematology; Oct2001, Vol. 67 Issue 4, p258-262, 5p, 2 Diagrams, 1 Chart |
| Abstrakt: |
Two cases of the Thai thalassemia patients with compound heterozygosities for (δβ)°/β°-thalassemia and (δβ)°-thalassemia/hemoglobin E have been reported. The first case was a 8-yr-old boy who had the following hematologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. Hemoglobin analysis revealed 1.9% hemoglobin A2 and 91.7% hemoglobin F. The second case, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old male who had 46.1% hemoglobin E and 49.8% hemoglobin F. Globin gene analyses showed that both probands carried the same deletional type (δβ)°-thalassemia trans to the 4 bp deletions in codons 41/42 β°-thalassemia and to the βE -globin gene, respectively. Polymerase chain reaction and DNA sequence analyses demonstrated that the 5′ breakpoint of the (δβ)°-thalassemia deletion was located in the second intron of the δ-globin gene and that the 3′ breakpoint lay within a cluster of LI repetitive sequences at 4.7 kb 3′ to the β-globin gene. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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