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Thalassemia Reports, Volume 14, Issue 4

December 2024 - 3 articles

Cover Story: Thalassemia represents a heterogeneous group of inherited blood disorders resulting from mutations in the globin chain genes, causing defective hemoglobin production. This leads to ineffective erythropoiesis, hemolysis, and anemia, often accompanied by severe complications such as iron overload. Affecting millions globally, particularly in regions like the Mediterranean, South Asia, and Africa, its management requires lifelong transfusions and iron chelation therapy. Emerging therapies like gene editing and bone marrow transplantation promise transformative advances. This paper provides a comprehensive review of pathophysiology, diagnostic techniques, and evolving treatment strategies of thalassemia, emphasizing future directions to improve outcomes. View this paper

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Articles (3)

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Case Report

1 Citations

1,510 Views

4 Pages

Genotype–Phenotype Correlation in a Couple in Which the Wife Is a Carrier of the Beta-Thalassemia Trait and the Husband Is a Carrier of a Mutation in the ALAS2 Gene: Both Gene Defects Are Associated with Non-Iron-Deficiency Microcytic Anemia

Domenico Dell’Edera,
Carmela Centoducati,
Arianna Allegretti,
Francesco La Rocca and
Brunilde Persia

Thalass. Rep.2024, 14(4), 118-121;https://doi.org/10.3390/thalassrep14040012

9 December 2024

Introduction: Generally, microcytic anaemia is caused by sideropenia or a genetic gap. The suspicion that microcytic anaemia is caused by a genetic gap must always be considered in the face of an inadequate response to martial therapy. The aim of thi...

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Article

1 Citations

2,570 Views

15 Pages

Disease-Modifying Effect of HBS1L-MYB in HbE/β-Thalassemia Patients in Bangladeshi Population

Jannatul Ferdous,
Marzia Tasnim,
Firdausi Qadri,
Md. Ismail Hosen,
Emran Kabir Chowdhury and
Hossain Uddin Shekhar

Thalass. Rep.2024, 14(4), 103-117;https://doi.org/10.3390/thalassrep14040011

26 November 2024

Background: Thalassemias are a group of autosomal recessive disorders and the most common inherited disease worldwide. Fetal hemoglobin (HbF) is the main oxygen carrier protein in the human fetus. Elevated HbF level is known to ameliorate the severit...

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Review

24 Citations

48,594 Views

22 Pages

Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment

Idris Zubairu Sadiq,
Fatima Sadiq Abubakar,
Hauwa Salisu Usman,
Aliyu Dantani Abdullahi,
Bashiru Ibrahim,
Babangida Sanusi Kastayal,
Maryam Ibrahim and
Hassan Aliyu Hassan

Thalass. Rep.2024, 14(4), 81-102;https://doi.org/10.3390/thalassrep14040010

15 October 2024

Thalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications. The complicated pathophysiology of beta-thalassemia involves geneti...

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Thalass. Rep. - ISSN 2039-4365

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