Abstract |
beta Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe beta thalassemia/ hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele of beta globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous beta globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of beta thalassemia.
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Authors | Ponlapat Rojnuckarin, Rung Settapiboon, Preeda Vanichsetakul, Tada Sueblinvong, Pranee Sutcharitchan |
Journal | American journal of hematology
(Am J Hematol)
Vol. 82
Issue 7
Pg. 663-5
(Jul 2007)
ISSN: 0361-8609 [Print] United States |
PMID | 17160997
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Alleles
- Base Pairing
- Base Sequence
- Fathers
- Female
- Gene Duplication
- Globins
(genetics)
- Hemoglobin E
(genetics, metabolism)
- Humans
- Infant
- Male
- Molecular Sequence Data
- beta-Thalassemia
(classification, genetics, metabolism, pathology)
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