HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene.

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.
AuthorsPonlapat Rojnuckarin, Rung Settapiboon, Preeda Vanichsetakul, Tada Sueblinvong, Pranee Sutcharitchan
JournalAmerican journal of hematology (Am J Hematol) Vol. 82 Issue 7 Pg. 663-5 (Jul 2007) ISSN: 0361-8609 [Print] United States
PMID17160997 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Globins
  • Hemoglobin E
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)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: