Homozygosity for the Severe β⁺-Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation

Vinaykumar BoharaInstitute of Hematology and Transfusion Medicine, Kolkata, IndiaCorrespondence[email protected]

Lalit RautInstitute of Hematology and Transfusion Medicine, Kolkata, India

Girish BadarkheInstitute of Hematology and Transfusion Medicine, Kolkata, India

Siddartha S. RoyInstitute of Hematology and Transfusion Medicine, Kolkata, India

Utpal ChaudhuriInstitute of Hematology and Transfusion Medicine, Kolkata, India

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Mousumi D Ghosh, Mamta R Datta, Vinita Singh & Farah Rana. (2021) Pregnancy and Childbirth: An Unexpected Cakewalk for a Mother With Beta Thalassemia Major Homozygous for IVS (G-C) Mutation. Cureus.
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Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen, Stephan Menzel, David Rees & Anuja Premawardhena. (2020) Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity. Orphanet Journal of Rare Diseases 15:1.
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Danny Xuan Rong Koh, Raja Zahratul Azma Raja Sabudin, Malisa Mohd Yusoff, Noor Hamidah Hussin, Rahimah Ahmad, Ainoon Othman & Endom Ismail. (2017) Molecular Characterisation of α - and β -Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia . Annals of Human Genetics 81:5, pages 205-212.
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Adekunle D. Adekile, Nagihan Akbulut, Asmaa F. Azab, Sundus Al-Sharida & Diana Thomas. (2017) The Sickle β-Thalassemia Phenotype. Journal of Pediatric Hematology/Oncology 39:5, pages 327-331.
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Wissam A. AlwazaniRawabi ZahidAisha ElaimiOsamah BajouhSalwa HindawiBadr ArabGhazi DamanhouriMohamad Yassin SakaRola TurkiJalaluddin A. KhanAshraf DallolAdel M. Abuzenadah. (2016) Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays. Genetic Testing and Molecular Biomarkers 20:3, pages 154-157.
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A. Nadkarni, P. Dabke, R. Colah & K. Ghosh. (2015) Molecular understanding of Indian untransfused thalassemia intermedia. International Journal of Laboratory Hematology 37:6, pages 791-796.
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Homozygosity for the Severe β⁺-Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation

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Homozygosity for the Severe β+-Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation

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Homozygosity for the Severe β⁺-Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation