bims-conane 2025-08-10 papers

Rinsho Ketsueki. 2025 ;66(7): 557-564

[Emerging perspectives on sideroblastic anemia].

Sideroblastic anemias (SAs) represent a diverse group of congenital and acquired disorders, characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) arises from genetic mutations that disrupt heme and iron metabolism within mitochondria. The most common form of CSA is X-linked sideroblastic anemia (XLSA), caused by mutations in the erythroid-specific aminolevulinate synthase 2 (ALAS2) gene, a key enzyme in the heme biosynthesis pathway in erythroid cells. On the other hand, the most common form of acquired SA is myelodysplastic syndrome with ring sideroblasts (MDS-RS). The review explores the current understanding and emerging perspectives on the pathophysiology of SAs, with a particular focus on XLSA and MDS-RS.

Keywords: Gene mutation; Ring sideroblast; Sideroblastic anemia; iron

DOI: https://doi.org/10.11406/rinketsu.66.557

Hemoglobin. 2025 Aug 07. 1-5

Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report.

Hassan Fawaz, Mohammad Hassan Hodroj, Nicole Charbel, Sacha El Khoury, Ali Taher.

Beta-thalassemia is a hereditary hemoglobinopathy characterized by significant clinical variability, largely influenced by the underlying genetic mutations. We report a 47-year-old female patient with β-thalassemia intermedia harboring a rare homozygous mutation in the β-globin gene promoter: HBB:c.-136C > G (-86 C > G). The patient showed marked clinical response to hydroxyurea therapy with a notable increase in hemoglobin levels, reduction in spleen size and improvement of fatigue and bone pain due to extramedullary hematopoiesis. This report highlights the role of genetic characterization in understanding rare forms of thalassemia and the potential of hydroxyurea as a personalized treatment strategy for patients with unique genetic determinants.

Keywords: Hydroxyurea; beta thalassemia; beta-thalassemia intermedia

DOI: https://doi.org/10.1080/03630269.2025.2543327

Blood Rev. 2025 Jul 29. pii: S0268-960X(25)00072-4. [Epub ahead of print] 101327

Beyond the blood: A practical guide to thalassemia care in the emergency department.

Afif Mufarrij, Mohammad Hassan Hodroj, Nicole Charbel, Sacha El Khoury, Souraya Arabi, Ali Taher.

β-thalassemia is a hereditary hemoglobinopathy characterized by ineffective erythropoiesis, chronic anemia, and iron overload. Improved survival rates due to advances in transfusion and iron chelation therapies have shifted the clinical burden toward managing complex, often acute, complications that commonly present to the emergency department (ED). This review provides an evidence-based, system-oriented framework for emergency physicians to recognize and manage β-thalassemia-related emergencies. Initial ED assessment should focus on hemodynamic stability, transfusion history, iron chelation regimen, and complications such as splenectomy or infections. Common presentations include symptomatic anemia, cardiac decompensation, thromboembolic events, infections, and transfusion-related reactions. Cardiac complications, ranging from arrhythmias to iron-overload cardiomyopathy, are the leading cause of mortality and require urgent intervention. Pulmonary hypertension, high-output heart failure, and thromboembolic events are prevalent, particularly in non-transfusion dependent and splenectomized patients. Infectious complications, especially in asplenic individuals, can progress rapidly and warrant early empiric antibiotic therapy. Neurological presentations such as spinal cord compression or stroke may be under-recognized but necessitate immediate imaging and multidisciplinary care. Renal dysfunction, leg ulcers, cholelithiasis, and endocrinopathies further complicate emergency presentations. Effective ED management relies on prompt recognition, appropriate diagnostics, and early consultation with hematology, cardiology, infectious disease, and surgical teams. Incorporating transfusion protocols, chelation adjustments, and disposition planning enhances continuity of care. By increasing awareness and training, ED providers can significantly impact outcomes in this growing patient population. This review aims to bridge the knowledge gap and provide practical guidance for acute care providers encountering β-thalassemia-related emergencies.

Keywords: Coordination; Emergency; Hematologic complications; Non-hematologic complications; Β-Thalassemia

DOI: https://doi.org/10.1016/j.blre.2025.101327

Cureus. 2025 Jul;17(7): e87278

Assessment of Lung Function and Its Correlation With Iron Overload in Children With Thalassemia Major.

Rufeena J, Upendra P Sahu, Shambhavi Datta, Prity K Rajak, Praveen Kumar Singh.

INTRODUCTION: Thalassemia major is a genetic disorder characterised by defective red cell production. Due to the requirement of regular blood transfusions, these patients are at risk of iron overload, leading to iron deposition in all organs, including the lungs, causing hemosiderosis of the lung, thereby causing impairment of lung function.
OBJECTIVES: The primary objective was to assess lung dysfunction in children with thalassemia major and to correlate it with serum iron status. The secondary objectives were to find the prevalence, type and severity of lung dysfunction in these children.
METHODOLOGY: A cross-sectional study was conducted in the paediatrics department of a tertiary care hospital in Jharkhand, Eastern India, from December 2022 to April 2024. Eighty children with a diagnosis of thalassemia major, aged 6 to 18 years, with a history of more than 10 blood transfusions, were enrolled. Forced expiratory volume in one second (FEV1), forced vital capacity (FVC), and FEV1/FVC ratio estimation by spirometer, serum ferritin and CRP were assessed.
RESULTS: Of the 80 children included in the study, 52 were males (65%) and 28 were females (35%). A total of 87.5% (n = 70) of them showed a restrictive pattern of lung involvement. Around 52.5% (n = 42) had mild, 18.75% (n = 15) had moderate, 10% (n = 8) had moderately severe, and 6.25% (n = 5) had severe restriction of lung function. The mean serum ferritin values were 3344.55 ng/mL, 5657.07 ng/mL, 5165.5 ng/mL and 8024.2 ng/mL in children with mild, moderate, moderately severe and very severe restriction of pulmonary function, respectively. The serum ferritin levels had a significant correlation with lung function (r = -0.78, p = 0.001).
CONCLUSION: In this study, we observed varying severity of restrictive type of lung dysfunction in children with thalassemia major despite regular iron chelation. There was a statistically significant association between varying severity of lung impairment and body iron status as measured by serum ferritin levels.

Keywords: iron overload; lung dysfunction; serum ferritin; spirometry; thalassemia major

DOI: https://doi.org/10.7759/cureus.87278

J Pediatr Surg. 2025 Aug 05. pii: S0022-3468(25)00355-0. [Epub ahead of print] 162508

Long-term outcome after partial splenectomy compared to total splenectomy in children with spherocytosis.

Splenectomy may be required for Hereditary Spherocytosis (HS) management. The severe infection risk after total splenectomy (TS) has led to an increasing interest in partial splenectomy (PS). Previous studies suspected that PS may be less effective, but long-term studies are lacking. Here, we compared the long-term efficacy of TS and PS. This French national multicenter retrospective study (2005-2017) included 96 children with a minimum post-surgery follow-up of 5 years. The primary endpoint was the hemoglobin concentration at the follow-up end. Intra- and post-operative complications and completion splenectomy were also reported. TS was performed in 70 patients (72.9%) and PS in 26. The mean post-surgery follow-up was 8 years (5-17). At the follow-up end, hemoglobin concentration was significantly higher in the TS than PS group (13.86g/dl±1.74 vs 11.87g/dl±1.28, p<0.01). Postoperative complications were not different, but hospital stay was longer for PS (6.9±2.6 days vs 4.9±2.5 days, p<0.01). Following PS, completion splenectomy was required in 11/26 patients (42.3%) after a mean interval of 7 years (first 8 years after PS for 25% of patients and after 17 years for one patient). Hemoglobin concentration was 11.8g/dl±1.28 after PS and 14.49g/dl±1.34 (p<0.01) after completion splenectomy, similar to that in the TS group. Hemoglobin concentration <8.5g/dL was a risk factor of later completion splenectomy (OR=10; 95% CI [2.23-100]; p=0.03). PS is associated with lower hemoglobin concentration and a significant risk of completion splenectomy several years after the initial surgery. Therefore, it requires long-term hemoglobin concentration monitoring, especially if the pre-surgery value is <8.5 g/dL.

DOI: https://doi.org/10.1016/j.jpedsurg.2025.162508