"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A
One of the most common silent β-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the β-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and b...
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| Main Author: | |
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2016-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/1116 |
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| Summary: | One of the most common silent β-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the β-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical β-thalassemia mutations leads to β-thalassemia intermedia, and this is important for Mediterranean populations where β-thalassemia is frequent. Awareness of this mutation, which may have a heterogeneous clinical presentation, is required. We herein present the unusual hematologic findings of a Turkish family carrying this mutation.
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| ISSN: | 0041-4301 2791-6421 |