Thalassemia Reports

16 pages, 914 KiB

Open AccessFeature PaperArticle

Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment

by Duantida Songdej and Suthat Fucharoen

Thalass. Rep. 2022, 12(4), 157-172; https://doi.org/10.3390/thalassrep12040020 - 22 Nov 2022

Cited by 2 | Viewed by 5620

One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or more α-globin genes is the most frequent molecular defect found in α-thalassemia, whereas non-deletional mutations also occur, leading to unstable α-globin chains. HbH is the most common clinically important α-thalassemia disease and occurs when three α-globin genes are deleted/mutated, leaving only one copy of the gene intact. HbH can be divided into deletional (--/-α) and non-deletional genotypes (--/α^Tα). Whereas clinical phenotypes of the former are usually homogenously mild to moderate, those of the latter can be diverse. As HbH disease is particularly prevalent in Southeast Asia and some parts of the Mediterranean region, where β-thalassemia is also prevalent, affected patients are sometimes left undertreated. Therefore, hematologists and general physicians need to be educated to provide optimal disease monitoring and early identification of those with more severe phenotypes. Some issues regarding transfusion and iron chelation management differ from those of β-thalassemia, and these need to be recognized. Hb Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia; affected patients lack production of α-globin chains. Recent advances in fetal medicine and neonatal intensive care have made it possible for BHFS to no longer constitute a universally fatal disorder. Transfusion and chelation strategies for rare survivors are distinct and require updating. Full article

(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)

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14 pages, 855 KiB

Open AccessCase Report

The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation)

by Michael Angastiniotis, Soteroula Christou, Annita Kolnakou, Evangelia Pangalou, Irene Savvidou, Dimitrios Farmakis and Androulla Eleftheriou

Thalass. Rep. 2022, 12(4), 143-156; https://doi.org/10.3390/thalassrep12040019 - 04 Nov 2022

Cited by 4 | Viewed by 2702

Abstract

Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal access to quality care in areas with developing economies, changing epidemiology due to massive migration flows, an evolving clinical spectrum due to ageing in well-treated patients, and limited access to novel high-cost therapies. We herein describe the organization of healthcare services for haemoglobinopathies in Cyprus—with particular focus on beta-thalassaemia, the most prevalent condition in this region—along with selected patient outcomes. This report aims at underscoring the fact that nationally funded and well-coordinated prevention and care programmes for chronic and complex conditions, such as haemoglobinopathies, with active involvement from patient organizations lead to effective disease control and excellent outcomes in survival, quality of life, social adaptation, and public health savings, and allow timely and effective responses to emerging crises, such as the COVID-19 pandemic. The Cyprus paradigm could therefore serve as a blueprint for the organization or adaptation of haemoglobinopathy programs in other countries since these disorders are still widely occurring. Full article

(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)

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8 pages, 499 KiB

Open AccessFeature PaperArticle

Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka

by Nadeeja Amarasinghe, Amila Amarasena, Anoj Thabrew, Prabhath Werawatte, Anuja Premawardhena, Farnaz Malik, Mohamed Abusayeed and Champika Wickramasinghe

Thalass. Rep. 2022, 12(4), 135-142; https://doi.org/10.3390/thalassrep12040018 - 19 Oct 2022

Cited by 1 | Viewed by 2487

Abstract

Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. We set about to examine the cost-effectiveness of novel policy options for thalassemia prevention in Sri Lanka. Methods: The current cost for treatment of a thalassemia major patient (USD 2602/yr) was compared against the cost per reduction of single birth with three novel strategies, namely intensifying the screening in the current five districts combined with an education program (policy option 1), a nationwide screening program (policy option 2), and antenatal screening combined with the termination of pregnancy (policy option 3). The incremental cost-effectiveness ratio (ICER) of the different strategies was calculated. Results: The status quo was considered to reduce one TM birth whilst the new policy options were able to reduce births by 14, 35, and 48, respectively. The costs incurred for the program for a year for status quo and the three novel programs were USD 104,788, 173,884, 781,372, and 904,186 respectively. Cost per prevention of a thalassemia major birth was USD 87,324, 12,420, 22,324, and 20,084, respectively. The lifetime cost per treatment of a thalassemia major patient was USD 34,653. Conclusions: Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births. Full article

(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)

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Thalass. Rep., Volume 12, Issue 4 (December 2022) – 3 articles

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