Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Dominantly Inherited beta-Thalassemia.

Georgi D Efremov1

  • 1Research Centre for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts. Skopje, Republic of Macedonia. gde@manu.edu.mk

Hemoglobin
|May 9, 2007
PubMed
Summary

Dominantly inherited beta-thalassemia involves unstable beta-globin variants. This study identifies two new hyperunstable hemoglobin variants, Hb Stara Zagora and Hb Jambol, linked to severe hemolytic anemia.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility.

Journal of andrology·2011
Same author

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

Journal of genetics·2011
Same author

Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152.

Forensic science international. Genetics·2010
Same author

Genetic inversions among hemophilia A patients from Macedonia and Bulgaria.

Acta haematologica·2009
Same author

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Genetic testing·2008
Same author

How I became a biochemist.

IUBMB life·2008

Area of Science:

  • Hematology
  • Molecular Genetics
  • Biochemistry

Background:

  • Dominantly inherited beta-thalassemia (thal) is molecularly diverse, often caused by mutations in or near the beta-globin gene locus.
  • Many cases involve exon 3 mutations, leading to unstable, truncated, or elongated beta-globin products.
  • A phenotypic overlap exists between dominant beta-thalassemia and certain highly unstable hemoglobin (Hb) variants.

Purpose of the Study:

  • To review dominantly inherited beta-thalassemia.
  • To present two new cases of hyperunstable hemoglobin (Hb) variants, Hb Stara Zagora and Hb Jambol, associated with severe hemolytic anemia.

Main Methods:

  • Genetic sequencing of the beta-globin gene.
  • RNA/DNA analysis for complex genomic rearrangements.
  • DNA analysis for paternity confirmation.
  • Hematological and clinical observations.

Main Results:

  • Hb Stara Zagora: A 6 bp deletion in the beta-globin gene resulted in the loss of three amino acids and the introduction of one, causing hyper instability and severe hemolytic anemia in a 2-year-old boy.
  • Hb Jambol: A complex genomic rearrangement, including insertions and deletions in the beta-globin gene, led to an elongated beta chain (151 residues) and severe hemolytic anemia in a 2-year-old girl.
  • Both cases presented with inclusion bodies and severe anemia requiring transfusions, despite normal hemoglobin analysis.

Conclusions:

  • Dominantly inherited beta-thalassemia can result from novel hyperunstable Hb variants.
  • These variants, like Hb Stara Zagora and Hb Jambol, cause severe hemolytic anemia due to extreme instability of the beta-globin chain.
  • Molecular characterization is crucial for understanding the pathogenesis of these rare genetic disorders.

Related Experiment Videos