ArticleCold Spring Harbor perspectives in medicine2013
The molecular basis of α-thalassemia.
Article in Cold Spring Harbor perspectives in medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 141 citations in OpenAlex.
- Contemporary Management of Thalassemia: A Perspective on Current Standards and the Emergence of FDA-Approved Oral Therapy.Health science reports · 2026Article
- Review
- Molecular and therapeutic frontiers in anemia therapy.The Journal of clinical investigation · 2026Review
- Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia.Blood red cells & iron · 2026Article
- Determination of mean corpuscular haemoglobin cut-off point for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening.Annals of hematology · 2026Article
- Importance of the 3'UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia.Annals of hematology · 2025Article
- Revisiting hemoglobin constant spring: molecular insights, pathophysiological mechanisms, and clinical perspectives.Orphanet journal of rare diseases · 2025Review
- Molecular Characterization of Three Novel Large Deletions Causing αInternational journal of molecular sciences · 2025Article
- Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Article
- Case report: A rare heterozygous Hb CS with heterozygous HbE in a family with thalassemia in China.Heliyon · 2024Article
- De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence.Annals of hematology · 2024Article
- Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease.BMC genomics · 2024Article
- Support Vector Machine-Based Formula for Detecting Suspected α Thalassemia Carriers: A Path toward Universal Screening.International journal of molecular sciences · 2024Article
- A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review.Annals of medicine and surgery (2012) · 2024Article
- Genetic screening of α-thalassemia fusion gene using routine flow-through hybridization.Frontiers in genetics · 2024Article
- Molecular Basis and Genetic Modifiers of Thalassemia.Hematology/oncology clinics of North America · 2023Review
- Thalassemia and Nanotheragnostics: Advanced Approaches for Diagnosis and Treatment.Biosensors · 2023Review
- Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster.International journal of molecular sciences · 2023Article
- NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.The Journal of molecular diagnostics : JMD · 2022Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The globin gene disorders including the thalassemias are among the most common human genetic diseases with more than 300,000 severely affected individuals born throughout the world every year. Because of the easy accessibility of purified, highly specialized, mature erythroid cells from peripheral blood, the hemoglobinopathies were among the first tractable human molecular diseases. From the 1970s onward, the analysis of the large repertoire of mutations underlying these conditions has elucidated many of the principles by which mutations occur and cause human genetic diseases. This work will summarize our current knowledge of the α-thalassemias, illustrating how detailed analysis of this group of diseases has contributed to our understanding of the general molecular mechanisms underlying many orphan and common diseases.
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