Heterozygous Beta Thalassemia (β-thalassemia) patients generally are asymptomatic. However, if presented with intermediate phenotype, it is an uncommon and requires further investigations. We describe a 32-year-old woman Gravida 3 Para 2 with heterozygous β-thalassemia presented with symptomatic anaemia and had history of requiring 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 triplication (αααanti-3.7). The laboratory diagnostic approaches and the challenges faced in investigating this case are discussed in the case report.
Heterozygous Beta Thalassemia (β-thalassemia) patients generally are asymptomatic. However, if presented with intermediate phenotype, it is an uncommon and requires further investigations. We describe a 32-year-old woman Gravida 3 Para 2 with heterozygous β-thalassemia presented with symptomatic ana...
مادة فرعية
Oman Medical Journal = المجلة الطبية العمانية