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Related Experiment Videos

Molecular screening for haemoglobin constant spring.

Y E Hsia1, C A Ford, L J Shapiro

  • 1Department of Genetics, John A. Burns School of Medicine, University of Hawaii, Honolulu.

Lancet (London, England)
|May 6, 1989
PubMed
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A new DNA test accurately detects the alpha Constant Spring (alpha cs alpha) mutation, a common cause of severe Hemoglobin H disease. This method improves upon traditional protein electrophoresis, revealing more cases in the Laotian population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Hemoglobin H disease is often caused by the alpha Constant Spring (alpha cs alpha) mutation.
  • Detecting the alpha cs alpha variant using protein electrophoresis is challenging.

Purpose of the Study:

  • To develop and validate a sensitive DNA-based method for detecting the alpha cs alpha mutation.
  • To assess the prevalence of alpha cs alpha in Laotian individuals with Hemoglobin E.

Main Methods:

  • Allele-specific polymerase chain amplification (PCR) of the alpha 2 globin gene's 3'-end.
  • Slot-blot hybridization for DNA sample analysis.
  • Comparison with traditional hemoglobin electrophoresis.

Main Results:

Related Experiment Videos

  • The PCR-based method successfully identified alpha cs alpha in subjects previously diagnosed by electrophoresis.
  • The technique also detected alpha cs alpha in patients negative by protein electrophoresis.
  • In Laotian individuals with HbE, 10 of 103 were alpha cs alpha heterozygotes, with some cases involving alpha globin deletions.

Conclusions:

  • The developed allele-specific PCR technique is highly specific and sensitive for detecting the alpha cs alpha mutation.
  • This method is suitable for clinical diagnosis and population studies, potentially revealing a higher incidence of alpha cs alpha than previously estimated.