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- Title
Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis.
- Authors
Rameli, Nabilah; Ramli, Marini; Zulkafli, Zefarina; Hassan, Mohd Nazri; Yusoff, Shafini Mohd; Mohd Noor, Noor Haslina; Hussin, Suryati; Mohamed Kamarudin, Nor Khairina; Yusoff, Yuslina Mat; Bahar, Rosnah
- 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 offrequent 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 (αααanti-3.7). In this case report, we discuss the laboratory diagnostic approaches and the challenges faced in investigating this case.
- Subjects
PHYSICAL diagnosis; MOLECULAR diagnosis; GENETIC mutation; RETICULOCYTES; BLOOD transfusion; LABORATORIES; ANEMIA; BLOOD diseases; BETA-Thalassemia; PHENOTYPES
- Publication
Oman Medical Journal, 2022, Vol 37, Issue 1, p1
- ISSN
1999-768X
- Publication type
Article
- DOI
10.5001/omj.2021.48