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Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFComparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.
Medicina (Kaunas)
January 2025
Department of Thalassemia Unit, Hatay Education and Research Hospital, Hatay 31027, Turkey.
This study aimed to identify asymptomatic brain lesions in patients with β-thalassemia major (TM) and sickle cell anemia (SCA) and evaluate the correlation of these lesions with factors such as splenectomy, thrombocytosis, and blood transfusions. A total of 26 patients with thalassemia major and 23 patients with sickle cell anemia were included. Ischemic lesions were categorized as lacunar, small vessel, or multifocal.
View Article and Find Full Text PDFSickle Cell Disease in the Islands of Zanzibar: Patients' Characteristics, Management, and Clinical Outcomes.
Genes (Basel)
January 2025
Mnazi Mmoja Hospital (MMH), Kaunda Road, Vuga Street, Zanzibar 71102, Tanzania.
Background: This study aimed to describe Sickle Cell Disease (SCD) phenotypes, sociodemographic characteristics, healthcare, and clinical outcomes of patients with SCD attending Mnazi Mmoja Hospital (MMH) in Zanzibar.
Methods: Individuals who visited MMH between September 2021 and December 2022 and were known or suspected to have SCD were enrolled in the clinic. Sociodemographic characteristics and clinical features were documented, and laboratory tests were performed.
Falsely Elevated HbA1c Levels in a Patient with Type 2 Diabetes Mellitus and Multiple Beta Globulin Gene Mutations.
Ann Clin Lab Sci
November 2024
Department of Internal Medicine, Hakuhokai Central Hospital, Hyogo, Japan
We present a patient with type 2 diabetes mellitus and a variant hemoglobin whose HbA1c levels were falsely elevated regardless of the measurement method [high-performance liquid chromatography (HPLC), enzymatic, and immuno-assay] used. The causes of the falsely high HbA1c levels in this patient were investigated. The patient was a 73-year-old man with frequent hypoglycemia on self-monitoring of blood glucose, whose HbA1c level when measured by HPLC (standard mode) and immunoassay was substantially higher than that predicted by continuous blood glucose monitoring or from the patient's glycated albumin level.
View Article and Find Full Text PDFThalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA).
Clin Chim Acta
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Centre for Obstetric & Gynecologic Disease, Beijing 100730 China. Electronic address:
Thalassemia is an inherited blood disorder and traditionally considered more prevalent in Southern China. However, with increased migration and intermarriage, more and more thalassemia carriers had been reported in Northern China. The lack of screening for thalassemia carriers may also result in missed diagnosis in Northern China.
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