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Hematology Reports
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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: 30 April 2026 | Viewed by 21271

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: hemoglobinopathies; 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

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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 (7 papers)

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Research

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12 pages, 895 KB  
Article
Fetal Safety of Intravenous Ferric Carboxymaltose in Pregnancy: A Cardiotocography Study from a Tertiary Care Hospital in Italy
by Francesca Polese, Chiara Pesce, Giulia De Fusco, Gianni Tidore, Enza Coluccia, Raffaele Battista and Gianluca Gessoni
Hematol. Rep. 2026, 18(1), 7; https://doi.org/10.3390/hematolrep18010007 - 5 Jan 2026
Viewed by 1682
Abstract
Background: Iron-deficient anemia (IDA) in pregnant women is a significant health issue globally. Oral iron supplementation is the primary treatment for IDA during pregnancy. For women who do not respond to or cannot tolerate oral iron treatment, intravenous (IV) iron preparations may offer [...] Read more.
Background: Iron-deficient anemia (IDA) in pregnant women is a significant health issue globally. Oral iron supplementation is the primary treatment for IDA during pregnancy. For women who do not respond to or cannot tolerate oral iron treatment, intravenous (IV) iron preparations may offer a viable therapeutic option in the third trimester of pregnancy. Ferric carboxymaltose (FCM; Ferinject®) is an IV iron preparation that allows rapid administration of high single doses of iron with a favorable safety profile. This study evaluated the potential impact of FCM therapy on fetal well-being by recording cardiotocography (CTG) before, during, and after iron infusions. Materials and Methods: We examined 105 women with IDA in the third trimester of pregnancy. During the initial evaluation, each patient was assessed for complete blood count, iron metabolism, B12, folates, hemoglobinopathies, CRP, kidney and liver function, and glucose levels. Each subject received intravenous ferric carboxymaltose (FCM), 500 mg. The study focused on the maternal and fetal safety of FCM infusion. The primary endpoint for maternal safety was the observation of adverse effects of iron infusion. For fetal safety, the primary endpoint was the assessment of CTG. Results: We considered 105 women, comprising 101 singleton and 4 twin pregnancies. The median hemoglobin (Hb) at initial observation was 95 g/L and 117 g/L post-therapy. Regarding maternal safety, side effects were observed during or after FCM infusion in four subjects; three cases involved local symptoms, while one case included nausea and skin rash. Concerning fetal safety, 100% of the cardiotocography records were deemed “normal” using the Dawes–Redman criteria. Conclusions: In conclusion, FCM proved effective in treating anemia in this clinically complex population of pregnant women in the third trimester and appeared safe in this cohort, though larger prospective studies are warranted. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
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11 pages, 564 KB  
Article
Interplay Between Sickle Cell Disease and Thrombosis: A Single Center Experience of Pathophysiology and Potential Risk Factors
by Rafail Tzanninis, Efthymia Vlachaki, Eleftheria Lefkou, Stavroula Tsiara, Stamatia Theodoridou, Athanasios Vyzantiadis and Miltiadis Matsagkas
Hematol. Rep. 2025, 17(5), 45; https://doi.org/10.3390/hematolrep17050045 - 3 Sep 2025
Viewed by 1638
Abstract
Background: Sickle cell disease (SCD) is among the most prevalent inherited hemoglobinopathies and is strongly associated with numerous coagulation abnormalities, hence constituting a severe hypercoagulable state. Methods: We conducted a single-center retrospective observational study of patients with SCD who were monitored at [...] Read more.
Background: Sickle cell disease (SCD) is among the most prevalent inherited hemoglobinopathies and is strongly associated with numerous coagulation abnormalities, hence constituting a severe hypercoagulable state. Methods: We conducted a single-center retrospective observational study of patients with SCD who were monitored at Hippokration Hospital of Thessaloniki between 1999 and 2024. Demographic characteristics, hemoglobin (Hb) genotype, medical history, anticoagulant and antiplatelet therapy, dosage of anticoagulant treatment, recurrence of the first episode of venous thromboembolism (VTE) and relevant laboratory values were examined as possible risk factors. Results: Among 46 patients, 12 (26.1%) developed thrombosis with the majority (75%) carrying the HbS/β-thal genotype. The prevalence of VTE in this study was 17.4%. Variables significantly associated with an increased risk of thrombosis included age at the time of thrombosis, patient age, use of anticoagulant treatment, anticoagulant dosage, antiplatelet therapy and type of transfusion (p < 0.05). On multivariate analysis, anticoagulant treatment and its dosage retained statistical significance (p < 0.05). Conclusions: These findings reinforce the strong association between SCD and thrombotic events. Despite the availability of a broad therapeutic armamentarium and increasing knowledge of the underlying disease mechanisms, the prevention and management of thrombosis in these patients remains a challenge. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
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Review

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16 pages, 279 KB  
Review
Pediatric Oral Iron Therapy: Choosing the Right Product for Your Patient
by Sonia Alexiadou, Emmanouela Tsouvala and Elpis Mantadakis
Hematol. Rep. 2026, 18(2), 20; https://doi.org/10.3390/hematolrep18020020 - 5 Mar 2026
Viewed by 1067
Abstract
In this narrative review, we address the prevention and therapy of iron deficiency anemia (IDA) with oral iron products in pediatric patients. Fortification of complementary foods with iron-containing micronutrient powders is the preferred method for the prevention of IDA in resource-limited settings. In [...] Read more.
In this narrative review, we address the prevention and therapy of iron deficiency anemia (IDA) with oral iron products in pediatric patients. Fortification of complementary foods with iron-containing micronutrient powders is the preferred method for the prevention of IDA in resource-limited settings. In developed countries, the prevention of sideropenia is through the consumption of iron-rich foods of animal origin. Regarding oral iron therapy, ferrous sulfate is the most widely used and cheapest product, but it is less well tolerated due to gastrointestinal side effects compared to complexes of ferric iron with polysaccharides, and complexes of iron with amino acids in casein, such as iron protein succinylate and iron acetyl aspartylate. These latter products are expensive and available only as single-dose vials with a fixed amount of elemental iron. Intermittent administration of ferrous sulfate, once or twice a week, is equally effective to daily therapy, with fewer side effects, and can be used in selected patients. Oral carbonyl iron has excellent bioavailability and the additional advantage of a high safety margin in cases of accidental overdose compared to iron salts, an important consideration given the potentially lethal consequences of iron overdose. Newer liposomal and sucrosomial iron products appear to have better intestinal tolerance and similar efficacy in the treatment of IDA, but limited pediatric data exist. In conclusion, all oral medicinal iron products are effective when prescribed for the treatment of IDA, if well-absorbed and taken consistently for 3 to 6 months. Physicians should be prepared to use alternative oral agents with better tolerance in case of gastrointestinal side effects. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
21 pages, 1141 KB  
Review
Iron Therapy in Pediatric Iron Deficiency and Iron-Deficiency Anemia: Efficacy, Safety, and Formulation-Specific Trade-Offs—A Narrative Review
by Guido Leone, Marta Arrabito, Giovanna Russo and Milena La Spina
Hematol. Rep. 2026, 18(1), 6; https://doi.org/10.3390/hematolrep18010006 - 3 Jan 2026
Viewed by 1911
Abstract
Background/Objectives: Iron deficiency (ID) is the most common nutritional disorder in childhood worldwide. It has profound consequences for growth, neurodevelopment, behaviour, and overall health. Despite the long-standing efficacy of oral ferrous salts, their poor gastrointestinal tolerability and adherence challenges have spurred the [...] Read more.
Background/Objectives: Iron deficiency (ID) is the most common nutritional disorder in childhood worldwide. It has profound consequences for growth, neurodevelopment, behaviour, and overall health. Despite the long-standing efficacy of oral ferrous salts, their poor gastrointestinal tolerability and adherence challenges have spurred the development of alternative formulations and innovative dosing strategies. Methods: We conducted a narrative review of national and international guidelines, pediatric randomized controlled trials, observational and cohort studies, cost-effectiveness analyses, diagnostic method papers, and reviews, with emphasis on diagnostic innovations, therapeutic outcomes, tolerability, and formulation-specific efficacy. Results: Ferrous salts remain the gold standard for efficacy, low cost, and guideline endorsement, but up to 40% of children experience GI intolerance. Therefore, a lower dosage of ferrous salts has been proposed for IDA as still being an efficacious and better-tolerated schedule. Also, alternate-day dosing improves absorption and tolerability and is supported by a recent pediatric RCT. Newer formulations—ferric polymaltose, ferrous bisglycinate, co-processed bisglycinate with alginate (Feralgine™), and vesicular encapsulated forms such as sucrosomial and liposomal ferric pyrophosphate—showed improved tolerability and palatability, supporting adherence with hematologic outcomes comparable to ferrous salts, particularly in children with intolerance, malabsorption, or inflammatory comorbidities. Intravenous iron is effective and safe with modern preparations and is reserved for severe anemia, malabsorption, or oral therapy failure. Conclusions: Oral ferrous salts should remain the first-line therapy in pediatric ID/IDA. Future pediatric trials should prioritize head-to-head comparisons of formulations, hepcidin-guided dosing, and patient-centred outcomes, including neurocognitive trajectories and quality of life. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
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12 pages, 225 KB  
Review
Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?
by Michael Angastiniotis and Androulla Eleftheriou
Hematol. Rep. 2025, 17(5), 48; https://doi.org/10.3390/hematolrep17050048 - 15 Sep 2025
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Abstract
Background/Objectives: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemias for which [...] Read more.
Background/Objectives: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemias for which many countries have developed screening and prevention programmes. To manage this heavy burden, two approaches were introduced over the years. The first one focused on reducing the annual affected births consequent to appropriate non-directive genetic counselling, offering to the parents the chance to make an informed choice concerning their reproductive lives. The second approach was related to the development of curative treatments such as haematopoietic stem cell transplantation (HSCT) in the early years, with continued ongoing efforts for improvements, followed by successful advances in gene-based holistic cures in more recent years. Genetic counselling is a vital component in successful prevention, aiming at informing individuals who are found to be carriers and couples who are both carriers with a 25% risk at every pregnancy of having an affected child in the case of recessive, Mendelian inheritance. The issues are many, and that may have to be discussed, highlighting the level of skills which a genetic counsellor is expected to possess and utilise appropriately in every counselling session. The concern is that such trained and skilled professionals are few in number and not well integrated into the multidisciplinary groups addressing the control of these complex disorders. It is our experience that for blood disorders, counselling is rarely in the hands of qualified scientists. It is our firm belief that it is necessary to incorporate genetic counselling as an integral part of haematology services. Methods: To investigate current practices we have drawn on the experience of existing programmes, as well as published literature. Results: Currently, in almost all haemoglobinopathy prevention programmes, counselling is offered by the clinicians in charge of clinical care or, in some settings, by the nurse of the clinic or the screening laboratory scientist. Conclusions: The Thalassaemia International Federation suggests and is in the process of developing special training in counselling as part of haematology training, as well as professional development modules for those already in practice. Considering the complexity of the issues that must be discussed, a multidisciplinary approach to counselling should be considered where possible. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)

Other

Jump to: Research, Review

8 pages, 726 KB  
Case Report
Anemia Due to Unexpected Zinc-Induced Copper Deficiency
by Nicholas Chun, Shehla Aman, Dan Xu, Jun Wang, Craig Zuppan and Albert Kheradpour
Hematol. Rep. 2025, 17(4), 35; https://doi.org/10.3390/hematolrep17040035 - 17 Jul 2025
Cited by 2 | Viewed by 10098
Abstract
Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in [...] Read more.
Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in the bone marrow, and sometimes features resembling myelodysplasia that, although not specific, may be an important clue to the diagnosis. Background and Clinical Significance: We report bone marrow findings in a child with anemia due to zinc-induced copper deficiency. Case Presentation: An 18-year-old female with cerebral palsy admitted for respiratory failure was found to have anemia and leukopenia with absolute neutropenia. A bone marrow smear showed occasional ring sideroblasts. Additional testing revealed reduced serum copper and elevated serum zinc. Further inquiry uncovered a several-year history of high-dose zinc supplementation. Conclusions: It is important to consider copper deficiency as a potential etiology in patients with anemia and neutropenia, as it may otherwise be mistaken for vitamin B12 deficiency or myelodysplasia. The presence of small vacuoles in hematopoietic precursors is an important clue to the diagnosis and may help avoid ineffective interventions. Full article
(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)
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8 pages, 822 KB  
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 1788
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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