Molecular Basis and Genetic Modifiers of Thalassemia

Tesio, Nicolò; Bauer, Daniel E.

doi:10.1016/j.hoc.2022.12.001

Cited by 10 publications

(7 citation statements)

References 173 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…339-344). Thus, in the era of molecular medicine, β-thalassemia carriers have a unique opportunity for additional genetic testing and secondary prevention strategy [37,39,41].…”

Section: Discussionmentioning

confidence: 99%

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Dordevic,

Ugrin,

Mrakovcic Sutic

et al. 2024

Preprint

View full text Add to dashboard Cite

Thalassemia syndromes are common monogenic disorders that represent a significant global health issue. No systematic epidemiological and molecular investigations on thalassemias in Croatian population have been reported to date. This prospective study included 70 children with a presumptive diagnosis of thalassemia, and their 42 first-degree relatives. Molecular characterization was performed using direct sequencing and gap-PCR methods. We identified 46 (30 children and 16 first-degree relatives) β-thalassemia heterozygous carriers from 24 unrelated families, carrying eight different mutations and one hemoglobin variant. Five variants account for approximately 85% of all affected β-globin alleles: Hb Lepore-Boston-Washington (32,6%), HBB: c.93-21G&gt;A (19,6%), HBB:c.315+1G&gt;A (13,1%), HBB:c.92+1G&gt;A (10,9%), and HBB:c.92+6T&gt;C variant (8,7%). A need for more detailed genetic profiling of β-thalassemia carriers is emphasized since genetic modifiers can significantly impact their phenotype. Our study provides important new insights into the relevance of β-thalassemia heterozygosity in the pediatric clinical practice.

show abstract

“…339-344). Thus, in the era of molecular medicine, β-thalassemia carriers have a unique opportunity for additional genetic testing and secondary prevention strategy [37,39,41].…”

Section: Discussionmentioning

confidence: 99%

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Dordevic,

Ugrin,

Mrakovcic Sutic

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Alpha deletions alter the severity of beta-thalassemia. 15,16 This genetic information significantly impacts the patients’ decision-making regarding their pregnancies. It underlines the importance of conducting molecular analyses for both beta- and alpha-thalassemia in prenatal diagnosis program.…”

Section: Discussionmentioning

confidence: 99%

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population

Traisrisilp,

Zheng,

Choy

et al. 2023

Obstet Med

View full text Add to dashboard Cite

Background Conventional thalassemia screening takes a stepwise approach and has limitations in comprehensively identifying all spectrums of mutations. This study aimed to investigate the performance of third-generation sequencing (TGS) compared to conventional molecular testing. Methods TGS was applied to validate all known variants detected by conventional testing and to detect missing variants in undiagnosed cases. The study was conducted at Maharaj Nakorn Chiang Mai Hospital between December 2021 and April 2022. Results In total, 19 cases were included in this study, among which 52.6% (10/19) had known thalassemia variants, while 47.7% (9/19) cases were undiagnosed by conventional methods. All 16 variants previously detected were validated by TGS, and TGS additionally detected 43.8% (7/16) thalassemia variants for 36.8% (7/19) cases. Conclusion TGS could provide additional genetic diagnoses compared with conventional methods. Further cost-effectiveness studies with a larger sample size are needed to explore the role of TGS in clinical practices.

show abstract

“…1 Thalassemia is a hereditary blood disease caused by reduced or absent expression of the globin chains that make up the hemoglobin molecule. 2 Thalassemia is named based on the type of globin chain whose synthesis is disturbed. Lack of production of β globin chains in β thalassemia will cause accumulation of α globin chains.…”

Section: Introductionmentioning

confidence: 99%

“…1 Indonesia is one of the countries in the world's thalassemia belt, namely a country with a high frequency of the thalassemia gene. 2 Epidemiological research in Indonesia found that the frequency of the β thalassemia gene ranges from 3-10% and an estimated 2500 newborns with β thalassemia major each year. 5,6 Monitoring of the complications of thalassemia disease in various organs is done a lot, but very few monitor kidney complications.…”

Section: Introductionmentioning

confidence: 99%

Estimated Glomerular Filtration Rate in Pediatric Patients with β-Thalassemia Major: A Single-Center Observational Study at Dr. M. Djamil General Hospital, Padang, Indonesia

Vania Ilmi Basri,

Husni,

Desiekawati

2024

Bioscmed

View full text Add to dashboard Cite

Background: Patients with β-thalassemia major can experience impaired kidney function. Impaired kidney function can occur without symptoms and before serious manifestations appear, so early markers are needed to detect kidney damage. Estimated glomerular filtration rate (eGFR) is a calculation to detect early impairment of kidney function and is widely accepted as an indicator in determining overall kidney function. This study aims to determine the estimated glomerular filtration rate in pediatric patients with β-thalassemia major. Methods: This research is a descriptive research. Data was taken from pediatric patients with β-thalassemia major who received routine transfusions at the pediatric polyclinic of Dr. M. Djamil General Hospital Padang from January 1st – July 31st 2023. Patients underwent hematology examination, serum ferritin, serum creatinine, and estimated glomerular filtration rate calculations using the Schwartz formula. Results: A total of 55 children met the research criteria, consisting of 27 boys (49%) and 28 girls (51%). The median serum creatinine level was 0.5 (0.3-0.8) mg/dL with a range with a mean estimated glomerular filtration rate of 167 mL/minute/1.73m2. Conclusion: Glomerular hyperfiltration occurs in the majority of β-thalassemia major patients, but a decrease in

show abstract

Molecular Basis and Genetic Modifiers of Thalassemia

Cited by 10 publications

References 173 publications

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population

Estimated Glomerular Filtration Rate in Pediatric Patients with β-Thalassemia Major: A Single-Center Observational Study at Dr. M. Djamil General Hospital, Padang, Indonesia

Contact Info

Product

Resources

About