Molecular nature of alpha-globin genes in the Saudi population.
PMID 26593158 | PMCID PMC4673362 | DOI 10.15537/smj.2015.11.12704 · Saudi medical journal · 2015 · View on PubMed ↗
Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes. There are 2 common types of α-globin genes; HBA2 and HBA1. Recently, it has been discovered that the HBA2 gene is replaced by a unique HBA12 gene convert in 5.7% of the Saudi population. The α-globin genes have been emerging as a molecular target for the treatment of β-thalassemia (β-thal). Hence, it is essential to understand the molecular nature of α-globin genes to treat the most prevalent hemoglobin disorders, such as sickle cell disease, α-thal, and β-thal prevalent in the Kingdom of Saudi Arabia. Thirty-two different α-globin genotypes have been observed in the Saudi population. This review outlines the classification of the α-globin genes on the basis of their molecular nature and complex combinations of α-globin genes, and their variants predominant in Saudis.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “There are 2 common types of α-globin genes; HBA2 and HBA1.” | 0.98 | hgnc_dict_v1 |
| gene | HBA1 | “There are 2 common types of α-globin genes; HBA2 and HBA1.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Hence, it is essential to understand the molecular nature of α-globin genes to treat the most prevalent hemoglobin disorders, such as sickle cell disease, α-thal, and β-thal prevalent in the Kingdom of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | thalassemia | “Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Molecular nature of alpha-globin genes in the Saudi population. Recently, it has been discovered that the HBA2 gene is replaced by a unique HBA12 gene convert in 5.7% of the Saudi population. Hence, it is essential to understand the molecular nature of α-globin genes to treat the most prevalent hemoglobin disorders, such as sickle cell disease, α-thal, and β-thal prevalent in the Kingdom of Saudi Arabia. Thirty-two different α-globin genotypes have been observed in the Saudi population.” | 0.95 | saudi_context_rules_v1 |