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Thalassemia 

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  1. Open Access 01-12-2024 | Thalassemia | OriginalPaper

    Growth and endocrinopathies among children with β-Thalassemia major treated at Dubai Thalassemia centre

    β-Thalassemia major (BTM) is a heterogenous group of hemolytic anemias that have an autosomal recessive inheritance. Anemia can result from reduced synthesis (β+) or complete absence (β0) of production of the β-globin’s hemoglobin chain [ 1 , 2 ].

  2. 08-05-2024 | Thalassemia | Online First

    Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab

    Prevention of birth of thalassemia major children by identification of risk couples and prenatal diagnosis has been recommended as a realistic and cost effective method for control of thalassemia. We present our experience of antenatal thalassemia

  3. 29-04-2024 | Thalassemia | Online First

    Multiparametric cardiac magnetic resonance in patients with thalassemia intermedia: new insights from the E-MIOT network

    Beta-thalassemias are genetic diseases characterized by reduced (β +) or absent (β0) β globin chain synthesis [ 1 ]. The term beta-thalassemia intermedia (TI) was first proposed in 1955 to describe patients with manifestations too mild to be …

  4. 27-02-2024 | Thalassemia | OriginalPaper

    Prevalence of thalassemia-carrier couples and fertility risk assessment

    Thalassemia is a highly prevalent hematologic disease in Guizhou, China. This study aimed to determine the epidemiological characteristics of thalassemia in couples at childbearing age and assess the neonatal risk of thalassemia in this …

  5. Open Access 23-03-2024 | Thalassemia | OriginalPaper

    Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia

    Hemoglobinopathies are genetic disorders of hemoglobin (Hb) and include structural hemoglobinopathies and thalassemia syndromes. Globally, 400,000 newborns are affected annually by clinically significant hemoglobinopathy. Of these, approximately …

  6. 06-04-2024 | Thalassemia | Online First

    Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia

    We evaluated the impact of the genotype on clinical and hematochemical features, hepatic and cardiac iron levels, and endocrine, hepatic, and cardiovascular complications in non-transfusion-dependent (NTD) β-thalassemia intermedia (TI) patients.

  7. 22-03-2024 | Hemophilia | Online First

    Successful Hematopoietic Stem Cell Transplantation in a Child with Thalassemia major and Moderate Haemophilia A

  8. 25-03-2024 | Hypogonadism | Online First

    Very low serum IGF-1 levels are associated with vertebral fractures in adult males with beta-thalassemia major

    Beta-thalassemia major (BTM) is a hereditary hematological disease characterized by defective globin chain synthesis resulting in chronic anemia [ 1 ]. Owing to chronic transfusion treatment and ineffective erythropoiesis, patients with BTM are …

  9. 13-03-2024 | Thalassemia | Online First

    Left atrial strain in patients with β-thalassemia major: a cross-sectional CMR study

    Beta-thalassemia stands as the most frequent haemoglobinopathy, characterised by impaired production of β chains of haemoglobin [ 1 , 2 ]. Beta-thalassemia major (β-TM) patients require lifelong red blood transfusions that inevitably result in iron …

  10. Open Access 26-03-2024 | Thalassemia | Online First

    Health-Related Quality-of-Life Impacts Associated with Transfusion-Dependent β-Thalassemia in the USA and UK: A Qualitative Assessment

    β-thalassemia is a hereditary hemoglobinopathy diagnosed in over 40,000 newborns worldwide each year, approximately 25,500 of whom have transfusion-dependent β-thalassemia (TDT) [ 1 , 2 ]. In England, approximately 26 newborns had confirmed …

  11. 19-03-2024 | Thalassemia | Online First

    Revisiting iron overload status and change thresholds as predictors of mortality in transfusion-dependent β-thalassemia: a 10-year cohort study

    Data on iron overload status and change thresholds that can predict mortality in patients with transfusion-dependent β-thalassemia (TDT) are limited. This was a retrospective cohort study of 912 TDT patients followed for up to 10 years at …

  12. Open Access 02-01-2024 | Biomarkers | OriginalPaper

    Peripheral blood circular RNA circ-0008102 may serve as a novel clinical biomarker in beta-thalassemia patients

    Circular RNA circ-0008102 has previously been found dysregulated in β-thalassemia (β-thal) in circRNAs microarray (GSE196682 and GSE241141). Our study is aimed at identifying whether circ-0008102 could be a novel biomarker in β-thal. The …

  13. 05-07-2023 | COVID-19 | ReviewPaper

    COVID-19 and β-thalassemia: in lieu of evidence and vague nexus

    Coronavirus disease 19 (COVID-19) is an infectious disease caused by severe acute respiratory coronavirus 2 (SARS-CoV-2) causing acute systemic disorders and multi-organ damage. β-thalassemia (β-T) is an autosomal recessive disorder leading to the …

  14. 14-02-2024 | Thalassemia | OriginalPaper

    Bone densitometry in Thalassemia major: a closer look at pitfalls and operator-related errors in a 10-year follow-up population

    Thalassemia major (TM) is a multisystemic disease caused by an inherited defect in the synthesis of hemoglobin [ 1 ]. The high prevalence of Thalassemia-associated osteoporosis (TAO) has a significant impact on the health of affected patients …

  15. Open Access 08-11-2023 | Thalassemia | OriginalPaper

    Research on the clinical factors of cardiac iron deposition in children with beta-thalassemia major

    Magnetic resonance imaging (MRI) T2* is the gold standard for detecting iron deposition in cardiac tissue, but the technique has limitations and cannot be fully performed in paediatric thalassemia patients. The aim of this study was to analyse …

  16. 01-01-2024 | OriginalPaper

    Pulmonary Artery Hypertension in Transfusion-Dependent Thalassemia

  17. Open Access 30-11-2023 | Thalassemia | Erratum

    Correction to: Research on the clinical factors of cardiac iron deposition in children with beta-thalassemia major

  18. Open Access 01-12-2024 | Thalassemia | OriginalPaper

    Neuroimaging features of primary central nervous system post-transplantation lymphoproliferative disorder following hematopoietic stem cell transplant in patients with β-thalassemia: a case series and review of literature

    Thalassemia is a collection of autosomal recessive disorders categorized by mutations or deletions in genes that regulate hemoglobin leading to impaired globin chain formation, and β-thalassemia is the most common subtype [ 1 ]. Hematopoietic stem …

  19. 03-01-2024 | SARS-CoV-2 | Letter

    Acute liver injury after SARS-CoV-2 vaccination and luspatercept administration in a patient with β-thalassemia

  20. 16-12-2023 | Thalassemia | Review

    Endocrinopathies in beta thalassemia: a narrative review

    This review presents recent data on endocrinopathies in patients with beta thalassemia, including their prevalence, proposed pathogenetic mechanisms, risk factors, diagnosis, and recommended treatment options.

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