Although the life expectancy of thalassemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease. The presence of a high incidence of thromboembolic events, mainly in thalassemia intermedia, has led to the identification of a hypercoagulable state in these patients. In this review, the molecular and cellular mechanisms leading to hypercoagulability in thalassemia are highlighted, with a special focus on thalassemia intermedia being the group with the highest incidence of thrombotic events as compared to other types of thalassemia. Clinical experience and available clues on optimal management are also discussed.
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http://dx.doi.org/10.4084/MJHID.2011.025 | DOI Listing |
Pak J Med Sci
January 2025
Noman Sadiq, MBBS, M.Phil, Associate professor, Department of Physiology, Makran Medical College, Turbat, Pakistan.
Objectives: To determine the prevalence of family planning practice among the parents of children affected with beta thalassemia major (BTM) and to determine the relationship between various factors and family planning practice in Makran division Balochistan.
Methods: A cross-sectional observational study was conducted on 190 parents having BTM children registered in thalassemia care centers throughout the Makran division from May 2023 to October 2023. The structured questionnaire was used and data was collected using the non-probability convenience technique.
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 PDFMedicina (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 PDFGenes (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.
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.
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