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Non-HFE Hemochromatosis in the Context of β-Thalassemia Trait: A Case Study on Iron Overload Dysregulation.
Cureus
November 2024
Internal Medicine, Creighton University School of Medicine, St. Joseph's Hospital and Medical Center, Phoenix, USA.
Thalassemia and hemochromatosis are two distinct conditions that involve dysregulation of iron metabolism, though their origin, clinical presentations, and treatments differ. This case represents a patient with incidentally discovered microcytic anemia due to β-thalassemia trait and non- hemochromatosis. It discusses the potential synergistic effect of these two diseases on iron overload and highlights the need for further testing to determine hereditary versus secondary causes of hemochromatosis.
View Article and Find Full Text PDFThe value of Mentzer index in the diagnosis of children thalassemia minor.
Hematology
December 2024
Department of Laboratory Medicine, Shenzhen Pediatrics Institute of Shantou University Medical College, Shenzhen, People's Republic of China.
Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.
Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR.
Standardization of hemoglobin A and hemoglobin F: Achievements and perspectives.
Clin Chim Acta
February 2025
EC, Joint Research Centre, Directorate F - Health and Food, Reference Materials Unit, Geel, Belgium.
The establishment of reference systems for the standardization of hemoglobin A (HbA) and fetal hemoglobin (HbF), both critical for improving diagnostic accuracy in conditions such as β-thalassemia and sickle cell disease, are described. Efforts were led by the IFCC and other groups to address and reduce the variability in laboratory measurements of these hemoglobins. This document outlines the production of certified reference materials (CRMs) for HbA and the development of a reference measurement procedure using isotope dilution mass spectrometry.
View Article and Find Full Text PDFβ-Thalassemia minor is associated with high rates of worsening anemia in pregnancy.
Blood
December 2024
Brigham and Women's Hospital, Boston, Massachusetts, United States.
We identified 347 pregnancies in patients with beta thalassemia minor. Hemoglobin was below 9 g/dL in 31% during third trimester and 7.6% at delivery.
View Article and Find Full Text PDF10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
Am J Hematol
February 2025
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
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