| Autor: |
L, Oggiano, L, Guiso, L, Frogheri, G, Loudianos, P, Pistidda, E, Rimini, M, Pirastu, A, Cao, M, Longinotti |
| Rok vydání: |
1994 |
| Předmět: |
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| Zdroj: |
American journal of hematology. 45(1) |
| ISSN: |
0361-8609 |
| Popis: |
The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border-line HbA2 levels and normal HbF proved to be heterozygotes for delta(+) 27 and beta(0) 39 point mutations in cis by allele specific oligonucleotide hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these beta-thalassemia carriers shows normal HbA2 levels, knowledge of the molecular basis of this novel delta beta-thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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