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Hematology Reports
Special Issues
Anaemia in Focus: Challenges and Solutions in Haematology
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Anaemia in Focus: Challenges and Solutions in Haematology

A special issue of Hematology Reports (ISSN 2038-8330).

Deadline for manuscript submissions: 31 October 2025 | Viewed by 675

Special Issue Editor

Dr. Efthymia Vlachaki

E-Mail Website
Guest Editor
Adult Thalassemia Unit, 2nd Department of Internal Medicine, Aristotle University of Thessaloniki, Hippokration General Hospital, 54942 Thessaloniki, Greece
Interests: thalassemia; ‪haematology‬; adult thalassemia; erythropoiesis

Special Issue Information

Dear Colleagues,

Anaemia, derived from the Greek word <αν-αίμα>, meaning “without blood”, is defined as low haemoglobin (Hb) levels below specific cut-off points adjusted for age, sex, physiological status, and altitude. It remains a critical global public health issue with a multifactorial aetiology requiring collaboration among physicians to identify and address its causes effectively. Challenges in haematology include managing iron-deficiency anaemia (IDA) in vulnerable populations, addressing anaemia of chronic disease (ACD), and treating genetic disorders like sickle cell anaemia and thalassemia. Limited access to diagnostics and treatments in low-resource settings and health inequities further complicate care. Overuse of blood transfusions and resistance to oral iron supplements also pose difficulties. Solutions involve advanced diagnostics, novel therapies like HIF-prolyl hydroxylase inhibitors, public health initiatives, and emerging technologies such as gene editing and telemedicine. A comprehensive, multidisciplinary approach is essential to improve outcomes and ensure equitable access to care globally.

This Special Issue aims to collect and publish original research articles and reviews demonstrating recent advances in our knowledge on new diagnostic and therapeutic approaches in these clinical conditions with particular regard to the personalization of the patient's treatment on the basis of their clinical characteristics, comorbidities, and preference.

Dr. Efthymia Vlachaki
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Hematology Reports is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • anaemia
  • low haemoglobin
  • iron-deficiency anaemia (IDA)
  • anaemia of chronic disease (ACD)
  • genetic disorders
  • personalised treatment
  • novel diagnostics
  • public health initiatives
  • emerging technologies

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Published Papers (1 paper)

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8 pages, 822 KiB  
Case Report
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency: A Rare Novel Case in an Arab-Muslim Israeli Child
by Motti Haimi and Jamal Mahamid
Hematol. Rep. 2025, 17(2), 20; https://doi.org/10.3390/hematolrep17020020 - 15 Apr 2025
Viewed by 399
Abstract
Background: Gamma-glutamylcysteine synthetase catalyzes the first and rate-limiting step in the synthesis of glutathione. Gamma-glutamylcysteine synthetase deficiency is a very rare condition that has so far been detected so far in nine patients from seven families worldwide. The inheritance of this disorder is [...] Read more.
Background: Gamma-glutamylcysteine synthetase catalyzes the first and rate-limiting step in the synthesis of glutathione. Gamma-glutamylcysteine synthetase deficiency is a very rare condition that has so far been detected so far in nine patients from seven families worldwide. The inheritance of this disorder is autosomal recessive. Methods: We report a case of 4.11-year-old boy, of Arab-Muslim origin, living in an Arab town in Israel who presented at the age of 2 days with severe anemia, reticulocytosis, and leukocytosis. Investigation for common causes of hemolytic anemia was negative (peripheral blood smear was normal, and he had a negative Coombs test, normal G6PD, and normal flow cytometry spherocytosis). The anemia worsened during the following days (hemoglobin (Hb): 7.2 g/dL) and he needed several blood transfusions. NGS (next-generation sequencing) gene panel analysis was performed. Results: In an NGS gene panel analysis for hereditary hemolytic anemias, we found a homozygotic change in the GCLC gene—G53.385.643c379C > T(homo)pArg127Cys—which confirms the diagnosis of gamma-glutamylcysteine synthetase deficiency. An additional rare change was found in this case in the GCLC gene, with unknown clinical significance: g.53373917, c 828 + 3A > G. Except for chronic anemia (Hb levels around 8 g/dL), the child has normal physical and neurological development. Conclusions: This study reports a rare case of gamma-glutamylcysteine synthetase deficiency in a 4.11-year-old Arab-Muslim boy from Israel who presented with severe anemia at 2 days old, aiming to document the first such case in the Middle East and contribute to the medical literature on this extremely rare condition that has only been detected in nine patients worldwide. Genetic analysis revealed a homozygotic change in the GCLC gene, confirming the diagnosis, and while the patient experiences chronic anemia, he maintains normal physical and neurological development, adding valuable insights to the understanding of this rare genetic disorder. An additional rare change was found in this case in the GCLC gene, with unknown clinical significance: g.53373917, c 828 + 3A > G. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
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