Abstract
Beta-thalassaemia is caused by the presence of two mutated β-globin genes, one inherited from each parent. We describe two families in which the diagnosis of β-thalassaemia intermedia was delayed because one of the parents, an obligatory heterozygote, had normal haematological parameters (silent carrier β-thalassaemia). DNA analysis revealed that these silent carriers were heterozygous for a point mutation in the polyadenylation signal (AATAAA-AATAAG). This defect is known to cause a moderately severe β-thalassaemia phenotype. In one case, concurrent deletional α-thalassaemia was found in the silent carrier, which may have contributed to the mild phenotype. The increasing availability of DNA analysis should allow prompt diagnosis of such cases. Silent carrier β-thalassaemia presents a diagnostic challenge to the clinician who evaluates children with anaemia.
Original language | English |
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Pages (from-to) | 574-576 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 152 |
Issue number | 7 |
DOIs | |
State | Published - Jul 1993 |
Externally published | Yes |
Keywords
- Thalassaemia
- Thalassaemia intermedia
- Thalassaemia trait