Sickle cell disease in gulf cooperation council countries: a systematic review

Abu-Shaheen, Amani; Dahan, Doaa; Henaa, Humariya; Nofal, Abdullah; Abdelmoety, Doaa; Riaz, Muhammad; AlSheef, Mohammed; Al-Matary, Abdulrahman; AlFayyad, Isamme

doi:10.1080/17474086.2022.2132225

Cited by 3 publications

(1 citation statement)

References 134 publications

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“…Probably, the clinical application of a new generation of technologies might be of help. The advanced molecular techniques, i.e., targeted sequencing by next-generation sequencing (NGS) and third-generation sequencing (TGS), have been recently suggested as more appropriate and valuable for DNA analysis of thalassemia [26,27]. NGS results are superior at variant calling to TGS thanks to its lower error rates, while the longer-read nature of the TGS permits haplotype-phasing, revealing exceptional variant discovery on the homologous genes.…”

Section: Discussionmentioning

confidence: 99%

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

Daidone

Carollo²,

Perricone

et al. 2023

IJMS

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Thalassemia is a Mendelian inherited blood disease caused by α- and β-globin gene mutations, known as one of the major health problems of Mediterranean populations. Here, we examined the distribution of α- and β-globin gene defects in the Trapani province population. A total of 2,401 individuals from Trapani province were enrolled from January 2007 to December 2021, and routine methodologies were used for detecting the α- and β-globin genic variants. Appropriate analysis was also performed. Eight mutations in the α globin gene showed the highest frequency in the sample studied; three of these genetic variants represented the 94% of the total α-thalassemia mutations observed, including the −α3.7 deletion (76%), and the tripling of the α gene (12%) and of the α2 point mutation IVS1-5nt (6%). For the β-globin gene, 12 mutations were detected, six of which constituted 83.4% of the total number of β-thalassemia defects observed, including codon β039 (38%), IVS1.6 T > C (15.6%), IVS1.110 G > A (11.8%), IVS1.1 G > A (11%), IVS2.745 C > G (4%), and IVS2.1 G > A (3%). However, the comparison of these frequencies with those detected in the population of other Sicilian provinces did not demonstrate significant differences, but it contrarily revealed a similitude. The data presented in this retrospective study help provide a picture of the prevalence of defects on the α and β-globin genes in the province of Trapani. The identification of mutations in globin genes in a population is required for carrier screening and for an accurate prenatal diagnosis. It is important and necessary to continue promoting public awareness campaigns and screening programs.

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Section: Discussionmentioning

confidence: 99%

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

Daidone

Carollo²,

Perricone

et al. 2023

IJMS

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Consanguinity and willingness to perform premarital genetic screening in Sudan

Elhadi,

Alrawa,

Alfadul

et al. 2023

Eur J Hum Genet

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Consanguineous marriage is prevalent in certain world regions due to cultural, economic, and social reasons. However, it can lead to negative consequences including an increased risk of genetic disorders in offspring. Premarital genetic screening (PMGS) is an important tool to identify and manage these risks before marriage. This study aimed to assess the magnitude of consanguineous marriage, knowledge of genetic diseases and PMGS, and attitudes and willingness to perform PMGS in Sudan. A national household survey was conducted using a multistage sampling technique, with a sample size of 2272 participants. Data were collected from December 2022 to March 2023 using an interviewer-administered questionnaire. A significant proportion of respondents (364/850, 42.8%) were married to consanguineal partners, with various types of relatedness. Moreover, 32.1% (242/755) of single respondents were planning to marry a close relative, signifying the likely persistence of consanguineous marriages in Sudan. The level of knowledge regarding genetic diseases and PMGS was relatively low in many states of Sudan, indicating the need for increased awareness interventions. A significant number of participants (85.2%) agreed that premarital screening is effective in reducing genetic diseases, whereas 71.2% supported the introduction of a mandatory PMGS program. Excluding married participants, 82.3% (1265/1537) of respondents were willing to perform PMGS, if implemented. These findings reflect the public positive attitude towards introducing the PMGS program and policies in Sudan and underscore the importance of addressing the knowledge gap of PMGS before such a potential implementation.

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Diagnostic test performance of the Mentzer index in evaluating Saudi children with microcytosis

AlQarni,

Althumairi,

Alkaltham

et al. 2024

Front. Med.

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BackgroundAnemia is a global public health concern, affecting both developing and industrialized countries at a rate of 39.8%. It is defined by low hemoglobin concentration, and anemia varies in severity based on age: <11 g/dL (6–59 months), <11.5 g/dL (5–11 years), and < 12 g/dL (12–14 years).AimThis study evaluates the Mentzer index’s reliability in differentiating iron deficiency anemia from the thalassemia trait.MethodsA total of 434 children (≤16 years) with hemoglobin electrophoresis previously screened for microcytosis (MCV <80 FL) and an iron profile were included. Children with other hematological conditions were excluded.ResultsOut of 434 children, 181 were diagnosed with thalassemia, and 345 had iron deficiency anemia. The Mentzer index showed 74% sensitivity and 63% specificity for the beta-thalassemia trait, with 61% sensitivity and 36% specificity for iron deficiency anemia. The beta-thalassemia trait group had the highest negative predictive value (98%), while iron deficiency anemia had the highest positive predictive value (79%).ConclusionOur study, which is consistent with previous literature, suggests that the Mentzer index is not highly reliable in distinguishing iron deficiency anemia from the thalassemia trait among children in Saudi Arabia.

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Sickle cell disease in gulf cooperation council countries: a systematic review

Cited by 3 publications

References 134 publications

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

Consanguinity and willingness to perform premarital genetic screening in Sudan

Diagnostic test performance of the Mentzer index in evaluating Saudi children with microcytosis

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