Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro]
Georgia Christopoulou1, Aggeliki Tserga, George P Patrinos
1Locus Medicus Laboratory, Athens, Greece.
Insights
Researchers identified Hb Crete, a beta-globin gene variant causing mild anemia, in a Greek patient. This first-time molecular characterization offers a new diagnostic approach for this hemoglobinopathy.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Hemoglobinopathies are inherited blood disorders affecting red blood cells.
- Accurate molecular characterization is crucial for diagnosing and managing these conditions.
Observation:
- A novel hemoglobin variant, Hb Crete [beta129(H7)Ala-->Pro], was identified in a female subject from Crete.
- The variant resulted from a GCC to CCC base substitution in exon 3 of the beta-globin gene.
Findings:
- The proband and her mother were heterozygotes for Hb Crete.
- They presented with mild microcytic anemia, normal Hemoglobin A2 levels, and normal iron metabolism.
- This study provides the first molecular basis and heterozygous case description of Hb Crete.
Implications:
- The findings expand the known spectrum of beta-globin gene mutations.
- A novel NlaVI restriction enzyme-based detection method for Hb Crete offers a fast and accurate diagnostic tool.
- This facilitates molecular diagnostics and genetic counseling for affected families.
Abstract:
We report the molecular characterization of Hb Crete [beta129(H7)Ala-->Pro] in a female subject from the Greek island of Crete. DNA sequence analysis revealed a 1368 GCC-->CCC base substitution in exon 3 of the beta-globin gene, leading to the Ala-->Pro amino acid change at codon 129. Both the proband and her mother, who were found to be heterozygotes for Hb Crete, presented with mild microcytic anemia and normal Hb A2 levels and iron metabolism indices. This is the first description of an heterozygous Hb Crete case, and also the first report on the molecular basis of Hb Crete. Moreover, the proposed NlaVI restriction enzyme-based detection of Hb Crete at the DNA level is a fast and accurate approach, useful for molecular diagnostics.
