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Thalassemia Reports, Volume 13, Issue 1

2023 March - 10 articles

Cover Story: The interaction of β-thalassemia with hemochromatosis, which is caused in most cases by mutations in the HFE gene, can further exacerbate iron overload that usually accompany β-thalassemia. Iron metabolism was studied in healthy subjects and β-thalassemia trait (BTT) carriers with and without the most frequent HFE gene mutations, i.e., C282Y, H63D and S65C. The ferritin level was increased in BTT subjects with H63D mutations, compared to the controls with the same mutation. This rise could not be attributed to the presence of the HFE gene mutation, since it was shown that the BTT carriers displayed higher ferritin levels than the healthy subjects. Because of this, there may be other genetic modifiers present in β-thalassemia individuals that could aggravate their ferric balance. View this paper
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Articles (10)

  • Article
  • Open Access
2 Citations
5,084 Views
9 Pages

Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers

  • María E. Mónaco,
  • Natalia S. Alvarez Asensio,
  • Cecilia Haro,
  • Magdalena M. Terán,
  • Miryam E. Ledesma Achem,
  • Blanca A. Issé and
  • Sandra S. Lazarte

17 March 2023

The human hemochromatosis protein HFE is encoded by the HFE gene and participates in iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in a control population and in β-thalassemia trait (BTT) carriers, and...

  • Article
  • Open Access
4 Citations
5,522 Views
28 Pages

Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

  • Poonam Tripathi,
  • Sarita Agarwal,
  • Kausik Mandal,
  • Anshul Gupta and
  • Aditya Narayan Sarangi

Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels. This prospective study was planned to evaluate the role of genetic polymorphisms in QTL gen...

  • Perspective
  • Open Access
3 Citations
7,420 Views
8 Pages

20 February 2023

Luspatercept has been shown to act as a ligand trap, selectively suppressing the deleterious effects of GDF11 that blocks terminal erythroid maturation, restoring normal erythroid differentiation and improving anemia in animal models of β-thalas...

  • Article
  • Open Access
8 Citations
5,861 Views
7 Pages

New-Generation Ektacytometry Study of Red Blood Cells in Different Hemoglobinopathies and Thalassemia

  • Elena Krishnevskaya,
  • Marta Molero,
  • Águeda Ancochea,
  • Ines Hernández and
  • Joan-Lluis Vives-Corrons

16 February 2023

Next-generation ektacytometry provided by the osmoscan module of the Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one of the best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osm...

  • Review
  • Open Access
11 Citations
23,222 Views
19 Pages

6 February 2023

β-Thalassemia is an inherited hematological disorder that results from genetic changes in the β-globin gene, leading to the reduced or absent synthesis of β-globin. For several decades, the only curative treatment option for β-tha...

  • Feature Paper
  • Review
  • Open Access
28 Citations
18,841 Views
13 Pages

Cardiovascular Complications in β-Thalassemia: Getting to the Heart of It

  • Nathalie Akiki,
  • Mohammad H. Hodroj,
  • Rayan Bou-Fakhredin,
  • Kamal Matli and
  • Ali T. Taher

30 January 2023

Beta thalassemia is an inherited disorder resulting in abnormal or decreased production of hemoglobin, leading to hemolysis and chronic anemia. The long-term complications can affect multiple organ systems, namely the liver, heart, and endocrine. Myo...

  • Perspective
  • Open Access
2 Citations
4,169 Views
5 Pages

Juggling between the Cost and Value of New Therapies: Does Science Still Serve Patient Needs?

  • Androulla Eleftheriou,
  • Dimitrios Farmakis,
  • Panos Englezos,
  • Shobha Tuli,
  • Elena Mylona,
  • George Constantinou,
  • Riyad Elbard,
  • Saeed Jafaar Al-Awadhi,
  • Sheikha Sheikha Bint Seif Al-Nahyan and
  • Michael Angastiniotis
  • + 7 authors

28 January 2023

Thalassaemia International Federation (TIF), representing the united voice of people with thalassaemia and their families globally, has been striving for more than three decades to empower research, by academic communities and industry, to focus on d...

  • Technical Note
  • Open Access
1 Citations
5,401 Views
12 Pages

16 January 2023

Background: Since the first year of the COVID-19 global pandemic, a hypothesis concerning the possible protection/immunity of beta-thalassemia carriers has remained in abeyance. Methods: Three databases (Pubmed Central, Scopus, and Google Scholar) we...

  • Feature Paper
  • Article
  • Open Access
1 Citations
3,530 Views
11 Pages

TIF Standards for Haemoglobinopathy Reference Centres

  • Michael Angastiniotis,
  • Androulla Eleftheriou,
  • Mohammed Naveed,
  • Ali Al Assaf,
  • Andreas Polynikis,
  • Elpidoforos S. Soteriades and
  • Dimitrios Farmakis

23 December 2022

Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary considerati...

  • Article
  • Open Access
3,539 Views
9 Pages

Impact of COVID-19 Pandemic on Pre-Transfusion Hemoglobin Level and Frequency of Transfusion in Transfusion-Dependent Thalassemia Patients in Indonesia

  • Ludi Dhyani Rahmartani,
  • Micheylla Kusumaning Dewi,
  • Stephen Diah Iskandar,
  • Anastasia Michelle Pratanata,
  • Ganda Ilmana,
  • Teny Tjitra Sari,
  • Anna Mira Lubis and
  • Pustika Amalia Wahidiyat

Transfusion-dependent thalassemia is the most severe form of thalassemia; patients require regular blood transfusions to maintain their hemoglobin level. The COVID-19 pandemic has disrupted the routine measures for controlling chronic diseases like t...

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Thalass. Rep. - ISSN 2039-4365