bims-conane 2026-05-24 papers

Clin Lab. 2026 May 01. 72(5):

GDF15 as a Marker of Ineffective Erythropoiesis and Erythroid Expansion in Thalassemia: a Clinical Perspective.

Andrea Piolatto, Nicolò Tesio, Martina Teti, Neha S Kargutkar, Carmen M Gaglioti, Vincenzo Voi, Giorgia Mandrile, Filomena Longo, Antonio G Piga, Giovanni B Ferrero.

BACKGROUND: Ineffective erythropoiesis is a hallmark of thalassemia syndromes. Growth differentiation factors, such as GDF15, play a crucial yet not fully understood role.
METHODS: Serum GDF15 levels were measured by ELISA in 486 individuals (362 thalassemia patients, 53 β-trait carriers, and 71 healthy subjects) and analyzed alongside biochemical and clinical parameters.
RESULTS: GDF15 levels were elevated in transfusion-dependent (TD) β-thalassemia (26-fold), non-transfusion-dependent (NTD) β-thalassemia (6-fold), and β-thalassemia carriers (2-fold) compared to healthy controls. Moreover, GDF15 levels were elevated in α-thalassemia patients (2-fold) compared to carriers. In TD β-thalassemia, GDF15 correlated inversely with hemoglobin and positively with erythropoietin. GDF15 also correlated with iron metabolism markers. Longitudinal analysis in a TD patient subgroup showed dynamic GDF15 changes post-transfusion, reflecting erythropoietic activity. Furthermore, GDF15 levels correlated with transfusion intervals, particularly in splenectomized patients.
CONCLUSIONS: GDF15 represents a promising biomarker for assessing thalassemia severity, monitoring treatment responses, and guiding therapies.

DOI: https://doi.org/10.7754/Clin.Lab.2025.250411

Cureus. 2026 Apr;18(4): e107168

Comorbidity of Dengue and Hereditary Spherocytosis in an 18-Year-Old Patient: A Case Report.

Rogelio I Becerra-Carrillo, César Mendoza-Maldonado, Horacio Rendón-Aguilar, Mariana Torres-Hernández, Luis Ochoa-Ramírez.

Hereditary spherocytosis (HS) is one of the most common non-immune hemolytic anemias, and it's characterized by defects in erythrocyte membrane proteins that result in increased red blood cell fragility and hemolysis. Dengue is an acute viral infection frequently associated with hematologic alterations, including thrombocytopenia and plasma leakage. The coexistence of dengue infection and HS has rarely been reported in the literature. In this report, we describe the case of an 18-year-old male with a history of HS, diagnosed during childhood, who presented with a five-day history of fever and headache. Serologic testing confirmed dengue infection. Laboratory studies revealed severe anemia and thrombocytopenia. Peripheral blood smear showed anisocytosis and spherocytes. Imaging studies demonstrated hepatomegaly, splenomegaly, gallbladder wall edema, and free intraperitoneal fluid. The patient improved with supportive management (such as intravenous Hartmann solution and the transfusion of two red blood cell concentrates) and was discharged without complications. This case highlights a rare comorbidity that exacerbates the hematologic abnormalities in patients with dengue infection.

Keywords: dengue infection; hemolytic anemia; heriditary spherocytosis; hyperbilirubinemia; thrombocytopenia

DOI: https://doi.org/10.7759/cureus.107168

BMC Infect Dis. 2026 May 22.

Parvovirus B19-induced aplastic crises in children with hereditary spherocytosis in the Czech Republic: multicentre retrospective study.

Petr Birke, Veronika Fiamoli, Barbora Ludíková, Jana Zapletalová, Dagmar Pospíšilová.

BACKGROUND: Hereditary spherocytosis is the most common congenital anaemia in Europe. In patients with this disease, parvovirus B19 infection leads to aplastic crisis - a severe complication with significant morbidity and decrease in haemoglobin concentration and reticulocyte count.
METHODS: This retrospective, multicentre study, conducted at the Department of Paediatrics, Faculty of Medicine and Dentistry Palacký University and University Hospital Olomouc, and the Department of Paediatric Haematology and Biochemistry, University Hospital Brno, Czech Republic, aims to describe the clinical features, diagnostic approaches, complications, and treatment of parvovirus B19-induced aplastic crises in paediatric patients with a diagnosis of hereditary spherocytosis between January 1 and June 30, 2024.
RESULTS: A total of 23 patients with a confirmed diagnosis of hereditary spherocytosis were hospitalised due to parvovirus B19-induced aplastic crisis. Their mean age was 6.9 years. The most frequent clinical symptoms were fever (p-value < 0.0001), pallor (p-value < 0.0001), fatigue (p-value 0.0001), vomiting (p-value 0.001), pain (p-value 0.004), and cough (p-value 0.009). Erythema infectiosum was rare. A mean haemoglobin concentration was 4.93 g/dL (range from 2.9 to 7.4 g/dL). Other abnormal haematological parameters included leukopenia (26.0%), thrombocytopenia (8.7%), or pancytopenia (26.0%). Mean transfusion requirements were 2.74 transfusion units of red blood cells. There was no significant difference between men and women in age, haemoglobin level, and number of transfusion units.
CONCLUSION: This study provides a frequency of multiple clinical symptoms of parvovirus B19-induced aplastic crises in children with hereditary spherocytosis during an epidemic, together with haematological parameters and transfusion requirements. Beginning in January 2024, we have observed more Parvovirus B19 aplastic crises than expected. Similar increase of incidence of parvovirus B19-induced aplastic crises incidence has been reported across Europe and North America.

Keywords: Aplastic crisis; Congenital haemolytic anaemia; Hereditary spherocytosis; Parvovirus B-19

DOI: https://doi.org/10.1186/s12879-026-13615-w

J Hum Genet. 2026 May 18.

Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China.

Fen Lin, Shi-Xiong Yang, Yi-Yuan Ge, Ying Yang, Long-Xu Xie, Li-Ye Yang.

Thalassemia, a genetically inherited hemoglobinopathy, represents a significant global health challenge with profound socioeconomic implications, particularly in endemic regions. The emergence of third-generation sequencing (TGS) technologies has revolutionized thalassemia research and diagnostic paradigms, offering unprecedented capabilities for comprehensive genetic characterization. Between 2021 and 2024, we conducted a comprehensive analysis of 536 clinically suspected thalassemia cases from southern China, conventional diagnostic methods and Nanopore TGS were performed simultaneously. Among the 536 subjects analyzed, TGS identified 332 cases harboring either common or rare variants, which included 160 cases with rare thalassemia variants, 50 cases with abnormal hemoglobin variants, and 122 cases carrying common α- or β-thalassemia mutations. --THAI and HKαα emerging as the most prevalent variants among rare thalassemia, followed by Chinese (Aγδβ)0 and α-Fusion gene. The predominant abnormal hemoglobin was Hb New York (HBB:c.341 T > A). We used TGS and discovered three rare variants that have not been identified by conventional diagnostic methods for thalassemia, the variants included two cases of α-globin chain 32.8 kb deletions and one case of β-globin chain 3.5 kb deletion. Hb G-Ferrara (HBB:c.174 C > A) and Hb Ethiopia (HBA2:c.421 T > C) were firstly identified in the Chinese population. Moreover, two novel α-globin variants: NC_000016.10:g.176260-176930del and HBA1:c.386 T > C were discovered in this study. This study expands the genetic landscape of hemoglobinopathies in Southern China by characterizing a comprehensive spectrum of rare variants. Our findings demonstrate the superior diagnostic capability of TGS in identifying rare thalassemia genotypes, suggesting its potential as a first-line molecular diagnostic tool for comprehensive hemoglobinopathy screening.

DOI: https://doi.org/10.1038/s10038-026-01477-8

Am J Med Genet A. 2026 May 22.

Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia.

Nicholas A Borja, Mustafa Tekin.

Keywords: RPL35A ; Diamond‐Blackfan anemia; diagnostic odyssey; revertant mosaicism; specimen selection

DOI: https://doi.org/10.1002/ajmg.a.70209