ReviewMediterranean journal of hematology and infectious diseases2017
β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.
Review in Mediterranean journal of hematology and infectious diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 6 of them syntheses that pooled it.
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Who cites it
128 citing papers in PubMed, 6 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Diagnosis and Management of Transfusion-Dependent Thalassemia: Evidence-Based Guidelines From the Pediatric Hematology Oncology Chapter of the Indian Academy of Pediatrics.Indian pediatrics · 2026Guideline
- Efficacy and safety of thalidomide in β-thalassaemia: a systematic review and meta-analysis.Scientific reports · 2026Pooled it
- The impact of chelation compliance in health outcome and health related quality of life in thalassaemia patients: a systematic review.Health and quality of life outcomes · 2024Pooled it
- Foetal haemoglobin inducers for reducing blood transfusion in non-transfusion-dependent beta-thalassaemias.The Cochrane database of systematic reviews · 2023Pooled it
- Extramedullary haematopoiesis in patients with transfusion dependent β-thalassaemia (TDT): a systematic review.Annals of medicine · 2022Pooled it
- Prevalence of transfusion-transmitted infections in multiple blood transfusion-dependent thalassemic patients in Asia: A systemic review.International journal of immunopathology and pharmacologyPooled it
- Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population.Scientific reports · 2021Trial
- Effects of a positive thinking program on hope and sleep quality in Iranian patients with thalassemia: a randomized clinical trial.BMC psychology · 2021Trial
- Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026Review
- Molecular profiling of thalassemia in Southeastern Romania.Journal of hematopathology · 2026Article
- Neutropenia in adult patients with thalassemia receiving deferiprone: a 10-year experience from a large thalassemia cohort.Blood research · 2026Article
- Validation of Gazelle Microchip Electrophoresis for Premarital Hemoglobinopathy Screening in Türkiye.EJHaem · 2026Article
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Expression of Immune CheckpointsTurkish journal of haematology : official journal of Turkish Society of Haematology · 2026Article
- Red blood cell alloimmunization in transfusion-dependent β-thalassemia major patients in Eastern Iran.Annals of hematology · 2026Article
- Medication Adherence, Clinical Outcomes, and Health-Related Quality of Life Among Pediatric Patients with β-Thalassemia Major Receiving Iron Chelation Therapy: A Multicenter Study from Punjab, Pakistan.Patient preference and adherence · 2026Article
- Comprehensive Review of Genetic and Epigenetic Regulation of Fetal Hemoglobin in β-Hemoglobinopathies: From Molecular Mechanisms to Clinical Applications.Mediterranean journal of hematology and infectious diseases · 2026Review
- Mutation Spectrum of Hemoglobinopathies in Tunisia.Human mutation · 2026Article
- Ineffective Erythropoiesis Markers in β-Thalassemia: A Systematic Review.Journal of clinical medicine · 2025Review
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
68 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHaemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β
aimThe principal aim of this paper is to review, from a historical standpoint, our knowledge about an ancient disease, the β-thalassemias, and in particular, when, how and in what way β-thalassemia spread worldwide to reach such high incidences in certain populations.
resultsMutations involving the β-globin gene are the most common cause of genetic disorders in humans. To date, more than 350 β-thalassaemia mutations have been reported. Considering the current distribution of β- thalassemia, the wide diversity of mutations and the small number of specific mutations in individual populations, it seems unlikely that β-thalassemia originated in a single place and time.
conclusionsVarious processes are known to determine the frequency of genetic disease in human populations. However, it is almost impossible to decide to what extent each process is responsible for the presence of a particular genetic disease. The wide spectrum of β-thalassemia mutations could well be explained by looking at their geographical distribution, the history of malaria, wars, invasions, mass migrations, consanguinity, and settlements. An analysis of the distribution of the molecular spectrum of haemoglobinopathies allows for the development and improvement of diagnostic tests and management of these disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.