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Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].
C L Harteveld1, J Traeger-Synodinos, A Ragusa
1Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333AL, Leiden, The Netherlands. keesh@lumc.nl
Haematologica
|January 9, 2001
Summary
Hemoglobin CS (Hb CS) mutations in the Mediterranean arose independently from Asian origins. Genetic analysis revealed distinct alpha-cluster haplotypes, confirming separate mutation events for Hb CS in Greek and Sicilian patients.
Area of Science:
- Molecular Biology
- Genetics
- Hematology
Background:
- Hemoglobin CS (Hb CS) is typically found in Southern China and Southeast Asia.
- Hb CS was identified in the Mediterranean in 1968, initially termed Hb Athens.
- Termination codon mutations in the alpha 2-globin gene are of interest.
Purpose of the Study:
- To investigate the independent origin of Hb CS termination codon mutations.
- To compare alpha-cluster haplotypes and hematologic data in Hb CS-Hb H patients.
- To determine if Mediterranean Hb CS arose from Asian populations.
Main Methods:
- Studied Greek and Sicilian patients with Hb CS-Hb H.
- Determined the alpha-cluster haplotype of the Hb CS allele in Mediterranean patients.
- Compared these haplotypes to an Hb CS-Hb H patient of Chinese origin.
Main Results:
- The alpha-cluster haplotype for Greek and Sicilian Hb CS was identical.
- This Mediterranean haplotype significantly differed from the Asiatic Hb CS mutation.
- Hematologic data from family members were compared.
Conclusions:
- The Hb CS mutation in Mediterranean patients originated independently in that region.
- Clinical manifestations varied, consistent with known variations in similar hemoglobinopathies.
- This suggests independent evolution of the same genetic mutation in different geographic areas.