The shortcut strategy for beta thalassemia prevention

Suwannakhon, Narutchala; Pongsawatkul, Khajohnsilp; Seeratanachot, Teerapat; Mahingsa, Khwanruedee; Pingyod, Arunee; Bumrungpakdee, Wanwipa; Sanguansermsri, Torpong

doi:10.4081/hr.2018.7530

Cited by 3 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the routine screening program, RDB is used widely to detect the 17 common β-thal variants [18]. However, there exists the possibility of missing rare and novel variants; this is especially crucial when one person is confirmed to be afflicted with thalassemia, and their partner is a suspected carrier [19]. Therefore, NGS should be applied to screen for β-globin gene variants for improved sensitivity and specificity.…”

Section: Discussionmentioning

confidence: 99%

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

et al. 2020

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

et al. 2020

View full text Add to dashboard Cite

“…If both were positive, a standard method of applying a confirmation test for thalassaemia was implemented. Yet, 20 years after launching the nationwide control programme for severe thalassaemia, still, only an approximately 50% coverage of preventative screening for pregnant women had been achieved because many women attended the antenatal care clinic late [22,46].…”

Section: Category Bmentioning

confidence: 99%

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

Halim-Fikri

Lederer

Baig

et al. 2022

JPM

View full text Add to dashboard Cite

The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies. We also apply this system to GGN countries as proof of principle. To this end, qualitative indicators were extracted from the IthaMaps database of the ITHANET portal, which allowed four groups of countries (A, B, C, and D) to be defined based on major qualitative indicators, supported by minor qualitative indicators for countries with limited resource settings and by the overall haemoglobinopathy carrier frequency for the target countries of immigration. The proposed rubrics and accumulative scores will help analyse the performance and improvement of care, treatment, and prevention of haemoglobinopathies in the GGN and beyond. Our proposed criteria complement future data collection from GGN countries to help monitor the quality of services for haemoglobinopathies, provide ongoing estimates for services and epidemiology in GGN countries, and note the contribution of the GGN to a local and global reduction of disease burden.

show abstract

Lessons learned from a prenatal diagnosis program for thalassemia in Thailand

et al. 2020

View full text Add to dashboard Cite

ObjectiveTo assess the outcome of a thalassemia screening program at community hospitals by determining the proportion of at‐risk couples able to obtain a prenatal diagnosis (PND) in relation to gestational age (GA).MethodsWe accessed records documenting prenatal screening for thalassemia in lower northern Thailand between January 2014 and December 2016. The proportion of at‐risk pregnancies able to obtain a PND was determined and median GAs at the time of at‐risk notification were compared. Reasons for failures to obtain PNDs were analyzed.ResultsAmong 4633 screen‐positive couples, 259 (5.6%) were identified as at‐risk while 23 were excluded due to unconfirmed outcomes. Forty‐one declined a PND and were excluded from the final calculations. Of the 195 remaining couples, 140 (71.8%) obtained a PND. Their median GA at the time of at‐risk notification was 12.4 (5.6‐29.1) weeks, which was earlier than the median GA of 17.7 (6.9‐34.6) weeks for couples not undergoing PND (P < .001). Risks for various types of thalassemia and GA were associated with the chances of achieving a PND.ConclusionIn practice, one quarter of couples identified as at‐risk were unable to obtain a PND. Time‐influencing factors seem to be a major determinant.

show abstract

The shortcut strategy for beta thalassemia prevention

Cited by 3 publications

References 16 publications

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

Lessons learned from a prenatal diagnosis program for thalassemia in Thailand

Contact Info

Product

Resources

About