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Amani M. Al-Amodi

Bio: Amani M. Al-Amodi is an academic researcher from University of Dammam. The author has contributed to research in topics: Population & Single-nucleotide polymorphism. The author has an hindex of 2, co-authored 4 publications receiving 24 citations.

Papers
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Journal ArticleDOI
TL;DR: PND was found to be a good opportunity for early diagnosis and gives parent’s choice and religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently.
Abstract: The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

24 citations

Journal ArticleDOI
TL;DR: HbA2 has a measure of unreliability in the diagnosis of β-thalassemia carriers, and can be incorrectly diagnosed as carriers.
Abstract: Introduction: Detection of β-thalassemia trait or carriers (β-TT) depends significantly on an increase in Hemoglobin A2 (HbA2) levels, which is found at low levels (<3%) in normal healthy individua...

19 citations

Journal ArticleDOI
TL;DR: The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.
Abstract: Introduction: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant's characteristics. This study aimed to identify the common β-globin HBB variants in the population of the Eastern Province, which has the highest prevalence of blood diseases in Saudi Arabia. Material and methods: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region. Results: A total of 36 variants in HBB gene were revealed with 11 variants that have been reported for the first time in Saudi Arabia, including 7 novel variants that have been identified for the first time in HBB gene. The novel variants consisted of two exonic (HBB:c.252C>T; HBB:c.281G>T) and five intronic variants (c.316-183_316-168del; c.315+241T>A; c.315+376T>C; c.316-114C>G; c.315+208T>G) at HBB gene. The novel exonic variants and three (c.316-183_316-168del; c.315+241T>A; c.315+376T>C) intronic variants were co-inherited with α deletion. Conclusions: This current study updated the HBB gene variations with newly identified variants of HBB gene and co-inheritance with α-globin deletions. The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.

8 citations

Journal ArticleDOI
TL;DR: In this paper, a case-control study was conducted to identify genetic predispositions of dental caries among Saudi children with high DMFT (Decayed, Missing, and Filled Teeth).

1 citations


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Journal ArticleDOI
TL;DR: PND was found to be a good opportunity for early diagnosis and gives parent’s choice and religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently.
Abstract: The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

24 citations

Journal ArticleDOI
TL;DR: The mutational spectrum in the HBB gene in Arab patients with β-thal is investigated to present a platform for further genetic epidemiological studies forArab patients withβ-thal.
Abstract: Objectives To investigate the mutational spectrum in the HBB gene in Arab patients with β-thal. Methods Authors searched five databases (PubMed, Science Direct, Scopus, Web of Science, and Google Scholar) from the time of inception until March 2020. Results The authors search strategy yielded 3,229 citations, of which 48 eligible studies captured. 105 mutations were captured, of these, 99 were shared between Arabs and other ethnic groups, six mutations were unique to Arabs (c.92 + 2 T > G, c.-240 G > A, c.150delC, c.420dupT, deletion of 192 bp spanning exon 1, intron 1, and the first two bases of exon 2 of HBB gene, and deletion of 9.6 kb, including exon 1 and intron 2 of HBB gene). The most common HBB gene mutations among Arabs were c.93-21 G > A, c.118 C > T, c.92 + 1 G > A, c.92 + 6 T > C, c.92 + 5 G > C, c.315 + 1 G > A, and c.27dupG. Consanguinity is high among Arab patients with β-thal. Migration into Arab countries led to allelic heterogeneity among Arab patients with β-thal. Conclusion Our findings present a platform for further genetic epidemiological studies for Arab patients with β-thal.

17 citations

Journal ArticleDOI
TL;DR: The most common causes of hospital admissions were congenital malformations of the circulatory system, the musculoskeletal system, genital organs, and the digestive system as discussed by the authors.
Abstract: Objectives: To investigate the trends in congenital anomalies-related hospital admissions in England and Wales. Methods: This was an ecological study that was conducted using hospital admission data taken from the Hospital Episode Statistics database in England and the Patient Episode Database for Wales. Congenital malformations, deformations and chromosomal abnormalities hospital admissions data were extracted for the period between April 1999 and March 2019. Results: Hospital admission rate increased by 4.9% [from 198.74 (95% CI 197.53–199.94) in 1999 to 208.55 (95% CI 207.39–209.71) in 2019 per 100,000 persons, trend test, p < 0.01]. The most common hospital admissions causes were congenital malformations of the circulatory system, the musculoskeletal system, genital organs, and the digestive system. The most notable increase in hospital admissions rate was observed in congenital malformations of the respiratory system (1.01-fold). The age group below 15 years accounted for 75.1% of the total number of hospital admissions. Males contributed to 57.5% of the whole number of hospital admission. Hospital admission rate between females was increased by 6.4% [from 162.63 (95% CI 161.10–164.16) in 1999 to 173.05 (95% CI 171.57–174.54) in 2019 per 100,000 persons]. Hospital admission rate between males was increased by 3.4% [from 236.61 (95% CI 234.72–238.50) in 1999 to 244.70 (95% CI 242.92–246.49) in 2019 per 100,000 persons]. Conclusions: Males had a higher percentage of hospitalisation compared to females. Further studies to investigate the factors associated with higher hospitalisation rate among males are needed.

17 citations

Journal ArticleDOI
TL;DR: This research presents a novel and scalable approach called “SmartPharmacy,” which aims to provide real-time information about the concrete mechanical properties of the response of the immune system to various types of drugs.
Abstract: 1Department of Pediatrics, College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia; 2ISARIC Global Support Centre, Centre for Tropical Medicine and Global Health, University of Oxford, Oxford, UK; 3Department of Pediatrics, Rostock University Medical Center, Rostock, 18057, Germany; 4Department of Pediatrics, Paracelsus Medical University, Nuremberg, 90471, Germany; 5College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia; 6Department of Applied Pharmaceutical Sciences and Clinical Pharmacy, Faculty of Pharmacy, Isra University, Amman, 11622, Jordan

13 citations

Journal ArticleDOI
TL;DR: This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations to develop a premarital screening program and lead to the best treatment and prevention strategies for beta-thalassemia.
Abstract: Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin ( HBB ) gene. Saudi Arabia is among the countries most affected bybeta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G greater than C) and Cd 39 (C greater than T) are the most prevalent HBB gene variations out of 42 variations. The coinheritance of HBB gene variations with ATRX , HBA1 , HBA2 , HBA12 , AHSP , and KLF1 gene variations were observed to be common in the Saudi population. National surveys on the molecular nature of hemoglobinopathies should be set up through collaborations between research centers from various regions to create a well-documented molecular data bank. This data bank can be used to develop a premarital screening program and lead to the best treatment and prevention strategies for beta-thalassemia. Saudi Med J 2018; Vol. 39 (4): 329-335 doi: 10.15537/smj.2018.4.21360 How to cite this article: Alaithan MA, AbdulAzeez S, Borgio JF. A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia. Saudi Med J . 2018 Apr;39(4):329-335. doi: 10.15537/smj.2018.4.21360.

11 citations