Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status.
PMID 3120460 | DOI 10.1159/000205861 · Acta haematologica · 1987
The presence of the sickle cell (Hb S) gene in Saudi Arabia was first reported by Lehmann et al. in 1963 [Nature 198, pp. 492-493]. Later, Hb S, alpha- and beta-thalassaemia, glucose-6-phosphate dehydrogenase deficiency and other enzymopathies were shown to occur at a variable prevalence in different regions of the country. Recent studies using restriction endonucleases have revealed alpha-globin gene arrangement and beta-globin gene polymorphism in the Saudi population. Interactions between abnormal genes are commonly encountered which often influence the clinical manifestations of sickle cell disease. In this paper, we present recent findings and discuss the status of haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Later, Hb S, alpha- and beta-thalassaemia, glucose-6-phosphate dehydrogenase deficiency and other enzymopathies were shown to occur at a variable prevalence in different regions of the country.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell disease | “Interactions between abnormal genes are commonly encountered which often influence the clinical manifestations of sickle cell disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status. The presence of the sickle cell (Hb S) gene in Saudi Arabia was first reported by Lehmann et al. in 1963 [Nature 198, pp. Recent studies using restriction endonucleases have revealed alpha-globin gene arrangement and beta-globin gene polymorphism in the Saudi population. In this paper, we present recent findings and discuss the status of haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |