bims-conane 2026-06-21 papers

Sci Rep. 2026 Jun 13.

Red Blood Cell Disorders Study Group

Hemoglobin H (Hb H) disease is a prevalent hereditary hemolytic anemia worldwide. Clinical severity varies by genotype, particularly between deletional and non-deletional forms, as well as the presence of co-inherited Hb E. However, disease-related complications remain underreported. We analyzed a Thai multicenter registry of 1,298 patients with Hb H disease to evaluate disease-related complications and risk factors. Deletional Hb H disease accounted for 55.9% of cases, whereas 44.1% had non-deletional disease. Hb E co-inheritance was present in 253 patients (19.5%). Patients with non-deletional Hb H disease and co-inherited Hb E had lower hemoglobin, higher ferritin levels, and greater transfusion requirements. Gallstones, pulmonary hypertension, extramedullary hematopoiesis, osteoporosis, and fractures were more frequent in non-deletional Hb H disease. After adjustment, increasing age (AOR 1.5; 95% CI 1.3-1.6; p<0.001), non-deletional Hb H disease (AOR 2.3; 95% CI 1.5-3.5; p<0.001), and transfusion dependency (AOR 2.7; 95% CI 1.4-5.3; p=0.003) were independently associated with overall complications. Splenectomy showed a marginal association (AOR 2.0; 95% CI 0.9-4.2; p=0.06). Gallstones were independently associated with non-deletional Hb H disease, splenectomy, and higher ferritin levels. Hyperuricemia was independently associated with increasing age and higher hemoglobin levels. These findings support genotype-informed monitoring in Hb H disease.

Keywords: Alpha-thalassemia; Disease-related complications; Hemoglobin H disease

DOI: https://doi.org/10.1038/s41598-026-56773-2

Blood Adv. 2026 Jun 18. pii: bloodadvances.2026020059. [Epub ahead of print]

Delayed Recognition and Significant Morbidity in Adults with Non-Transfusion-Dependent Thalassemia.

Aaron N Cheng, Scott A Peslak, Sujit Sheth, Farzana A Sayani, Ashutosh Lal.

Non-transfusion-dependent thalassemia (NTDT) is characterized by variable degrees of anemia, ineffective erythropoiesis, and iron overload, with a heightened risk of age-related complications. However, the clinical profiles of patients who first present to thalassemia care in adulthood, as well as the gaps in management, are poorly described. In a multi-institutional study, we identified 82 patients with NTDT aged ≥18 years who were referred to three U.S. thalassemia centers between 2013 and 2023. Data were collected by manual chart review and included clinical history, laboratory tests, and imaging. The median age at initial visit was 36.8 years (range 18-74), and 37 (45%) of the patients had α-thalassemia, while 45 (55%) had β-thalassemia. Complications assessed included symptomatic anemia, prior splenectomy, extramedullary hematopoiesis, iron overload, pulmonary hypertension, cardiac arrhythmia, endocrine complications, and thrombosis. Iron overload was common, with 71% of available liver MRIs showing hepatic iron >5 mg Fe/g dry weight. Among patients with LIC >5 mg Fe/g, only 24.4% were on chelation at referral. Strikingly, 49% of patients were recommended to start regular transfusions following the consultation, predominantly for symptomatic anemia or complications of ineffective erythropoiesis. Patients with NTDT referred for initial comprehensive thalassemia care in adulthood had high rates of morbidities and undertreated iron overload. The criteria for initiating regular transfusions must be widely implemented to mitigate long-term complications and improve the quality of life of adults with NTDT.

DOI: https://doi.org/10.1182/bloodadvances.2026020059

Turk J Haematol. 2026 Jun 19.

Recurrent Pseudo-Hemolysis as a Diagnostic Pitfall in Cobalamin E Deficiency: A Seven-Year Delayed Diagnosis.

Yasemin Duman, Ece Koç, Eyyüp Üçtepe, Hanifenur Mancılar, Deniz Aslan.

Keywords: Cobalamin E deficiency; Hyperhomocysteinemia; MTRR; Macrocytic anemia; Pseudo-hemolysis

DOI: https://doi.org/10.4274/tjh.galenos.2026.29726

Eur J Haematol. 2026 Jun 15.

Pancreatic Iron Overload Is Associated With Early QTc Prolongation Before Myocardial Iron Deposition in Transfusion-Dependent Thalassemia.

Antonella Meloni, Laura Pistoia, Giovan Battista Ruffo, Filomena Longo, Rosamaria Rosso, Vincenza Rossi, Giuseppe Messina, Giuseppe Peritore, Michela Zerbini, Nino Vallone, Priscilla Fina, Vincenzo Positano, Andrea Barison.

OBJECTIVES: This cross-sectional study evaluated the 12-lead electrocardiogram (ECG) corrected QT (QTc) interval as an accessible marker for organ-specific iron burden in adult patients with transfusion-dependent thalassemia (TDT).
METHODS: We considered 273 adult TDT patients (37.48 ± 8.75 years; 53.8% females), enrolled in the Extension-Myocardial Iron Overload in Thalassemia Network. All patients underwent magnetic resonance imaging (MRI) for the quantification of hepatic, pancreatic, and myocardial iron ( T2*$$ {T}_2^{\ast } $$ technique) and the assessment of biventricular size and function, alongside a standard ECG within 3 months.
RESULTS: QTc interval showed a significant negative correlation with pancreatic T2*$$ {T}_2^{\ast } $$ (R = 0.220; p < 0.0001) and cardiac T2*$$ {T}_2^{\ast } $$ (R = -0.201; p = 0.001). A QTc > 425 ms predicted myocardial iron overload (MIO; T2*$$ {T}_2^{\ast } $$ < 20 ms). A significant stepwise prolongation of the QTc interval was observed across groups: no iron overload (405.45 ms), isolated pancreatic siderosis (421.76 ms), and combined pancreatic/myocardial siderosis (433.01 ms) (p = 0.001). In patients without MIO, a QTc > 416 ms predicted pancreatic siderosis ( T2*$$ {T}_2^{\ast } $$ < 26 ms) and a multivariable regression analysis confirmed pancreatic iron, female sex, and splenectomy as independent predictors of QTc duration.
CONCLUSIONS: The QTc interval may serve as an early "metabolic sensor" of multi-organ iron toxicity. A QTc > 416 ms is associated with pancreatic siderosis and possible cardiac risk before MRI detects cardiac iron. While QTc alone is unlikely to be sufficient for individual patient risk stratification, this inexpensive and widely available parameter may help inform decisions regarding advanced imaging.

Keywords: corrected QT interval; electrocardiogram; myocardial iron overload; transfusion‐dependent thalassemia

DOI: https://doi.org/10.1111/ejh.70242