Abstract
Patients with heterozygous β-thalassemia are generally asymptomatic. However, the intermediate phenotype is uncommon, and patients require further investigation to confirm the diagnosis. We describe a 32-year-old woman (gravida 3, para 2) with heterozygous β-thalassemia who presented with symptomatic anemia and had a history of frequent blood transfusion in each pregnancy. Physical examination was unremarkable. Laboratory results at presentation showed hypochromic microcytic anemia with reticulocytosis. Molecular study revealed intermedia phenotypes resulting from coinheritance of heterozygous β-globin chain mutation (IVS1-5) and a rare heterozygous α-globin triplication (ααα anti-3.7). In this case report, we discuss the laboratory diagnostic approaches and the challenges faced in investigating this case.
Keywords
Subject
Publication details
- DOI
- 10.5001/omj.2021.48
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Rameli, N., Ramli, M., Zulkafli, Z., Hassan, M. N., Yusoff, S. M., Noor, N. H. M., Hussin, S., Kamarudin, N. K. M., Yusoff, Y. M., & Bahar, R. (2022). Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis. Oman Medical Journal. https://doi.org/10.5001/omj.2021.48
MLA 9
Rameli, Nabilah, et al. "Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis." Oman Medical Journal, 2022. https://doi.org/10.5001/omj.2021.48.
Chicago (author–date)
Rameli, Nabilah, Marini Ramli, Zefarina Zulkafli, Mohd Nazri Hassan, Shafini Mohd Yusoff, Noor Haslina Mohd Noor, Suryati Hussin, Nor Khairina Mohamed Kamarudin, Yuslina Mat Yusoff, and Rosnah Bahar. 2022. "Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis." Oman Medical Journal. https://doi.org/10.5001/omj.2021.48.
Harvard
Rameli, N., Ramli, M., Zulkafli, Z., Hassan, M. N., Yusoff, S. M., Noor, N. H. M., Hussin, S., Kamarudin, N. K. M., Yusoff, Y. M. and Bahar, R. (2022) 'Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis', Oman Medical Journal. doi:10.5001/omj.2021.48.
Vancouver
Rameli N, Ramli M, Zulkafli Z, Hassan MN, Yusoff SM, Noor NHM, et al. Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis. Oman Medical Journal. 2022. doi:10.5001/omj.2021.48
IEEE
N. Rameli, M. Ramli, Z. Zulkafli, M. N. Hassan, S. M. Yusoff, N. H. M. Noor, S. Hussin, N. K. M. Kamarudin, Y. M. Yusoff, and R. Bahar, "Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis," Oman Medical Journal, 2022, doi: 10.5001/omj.2021.48.