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ALPHA- AND BETA-GLOBIN GENE MUTATIONS IN GEORGIA AND ARMENIA
C Oberkanins1, K Pagava2, D Babikyan3
11ViennaLab Diagnostics, Vienna, Austria.
Georgian Medical News
|October 10, 2021
Summary
Carrier frequencies for alpha- and beta-globin mutations are low in Armenia and Georgia. Thalassemias do not appear to be a significant public health concern in these populations.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Georgia and Armenia are geographically positioned near regions with high thalassemia prevalence.
- Thalassemias are inherited blood disorders affecting hemoglobin production.
Purpose of the Study:
- To determine the carrier frequency of alpha- and beta-globin mutations in Georgian and Armenian populations.
- To identify the spectrum of globin gene mutations in these countries.
Main Methods:
- Analysis of 202 unselected subjects from Georgia and 190 from Armenia.
- Screening for common alpha-globin mutations (e.g., -3.7del, -4.2del, anti-3.7 triplication, poly-A2).
- Detection of beta-globin mutations, including codon 8 [-AA].
Main Results:
- Four alpha-globin mutations were identified in 9 Armenians (4.74%) and 4 Georgians (1.78%).
- One case of heterozygous beta-globin codon 8 [-AA] mutation was found in an Armenian individual.
- Overall carrier frequencies for these mutations were found to be low in both populations.
Conclusions:
- Thalassemia carrier rates appear low in Georgia and Armenia.
- Thalassemias are unlikely to represent a major health issue in these nations based on current data.
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