This study aimed at the identification of the spectrum of mutations in patients with β-thalassemia (β-thal) in the western province of Saudi Arabia. Screening for the mutations was done using the polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique to test for 12 mutations, and direct automated DNA sequencing for the unknown samples. The study included 172 patients; of these 15 patients had sickle cell anemia and one Hb S [β6(A3)Glu→Val, GAG>GTG]/β-thal. A total of 23 mutations were identified to cause the disease in the western area. Seven common mutations were responsible for the β-thal alleles in 78% of patients and could be detected by the ARMS technique: IVS-II-1 (G>A), IVS-I-110 (G>A), IVS-I-5 (G>C), codon 39 (C>T), codon 26 (G>A) [Hb E or β26(B8)Glu→Lys, GAG>AAG], frameshift codons (FSC) 8/9 (+G), and IVS-I-1 (G>A). DNA sequencing of uncharacterized alleles detected eight less common mutations: FSC 41/42 (-TCTT), IVS-I 25 bp deletion, codon 37 (G>A), FSC 44 (-C), Cap site +1 (A>C), IVS-I-6 (T>C), FSC 5 (-CT) and IVS-I-1 (G>T), and eight rare mutations: -87 (C>G), initiation codon -1 (T>G), codon 15 (G>A), FSC 16 (-C), FSC 20/21 (+G), codon 27 (G>A), IVS-I-130 (G>C) and IVS-II-837 (A>C). Four alleles were normal by DNA sequencing. Genetic heterogeneity was observed in this study, 10 mutations were of Asian or Asian/Indian origin, two were Kurdish, one Chinese, one Turkish, one Saudi, and the remainder were of Mediterranean origin. The presence of a large population of immigrants in the western province is responsible for the great heterogeneity at the molecular level, and for the difference observed in the frequencies of mutations from those reported in the eastern province of Saudi Arabia. Screening for β-thal mutations using PCR-ARMS for the seven most frequent mutations in the Saudi population followed by DNA sequencing of the unknown alleles could be useful for the implementation of a strategy for carrier detection and preimplantation genetic diagnosis in high risk families.
Purpose This study assesses the knowledge and attitudes of dermatologists in Saudi Arabia with regard to dry eye disease, refractive surgery, and contact lenses when prescribing isotretinoin. Methods A total of 150 dermatologists from major cities in Saudi Arabia were included in this cross-sectional study. Data were collected through a consent interview questionnaire. Results Of the 150 dermatologists who participated, 77 (51.3%) were men. Seventy-three (48.3%) dermatologists always prescribed isotretinoin to patients and 71 (47.3%) sometimes prescribed it. One hundred forty-six (97.3%) dermatologists self-reported their awareness of the ocular side effects of the drug. One hundred twenty (80.0%) responded that it was not important to refer patients to an ophthalmologist for an eye examination before starting the isotretinoin course. Lubricant eye drops were routinely prescribed by 96% of the respondents during the isotretinoin course. Fifty (33.3%) dermatologists rarely or never asked patients about recent refractive surgery before starting the isotretinoin course. Sixty-six (44%) dermatologists rarely or never warned their patients to avoid refractive surgery for at least 6 months after the isotretinoin course is completed. One hundred ten (73.3%) dermatologists always informed their patients of contact lens intolerance as a result of isotretinoin use. Conclusion Almost all participants prescribed lubricant eye drops routinely. Most participants self-reported their knowledge regarding the ocular side effects of isotretinoin; however, more than a third did not inquire about recent refractive surgery before starting the course, and less than half did not warn patients not to undergo refractive surgery 6 months after the end of the course. This demonstrates that a significant proportion of dermatologists do not follow the appropriate practices with respect to refractive surgery when they prescribe isotretinoin. Improving the dermatologists’ awareness regarding isotretinoin prescription practice is essential with respect to laser refractive surgery to prevent ocular damage.
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