Acute Splenic Infarct in β-Thalassemia Minor: A Novel Combination of Heterozygous β-Globin Mutations with Latent Phenotypes and the Clinical Implications

Abstract

Defects in hemoglobin (Hb) involve qualitative as well as quantitative alterations in globin physiology. The former include classic sickle cell disease, while the latter include the thalassemias. Individuals with α- and β-thalassemia (α- and β-thal) ‘trait’ have reduced Hb chain synthesis. These individuals are asymptomatic, their condition often coming to light as incidental findings. We report here the evaluation of a previously healthy man with β-thal minor who presented with acute splenic infarct in the context of severe dehydration. A hypercoagulability evaluation was performed and found to be negative. Hemoglobin electrophoresis was conducted to confirm the patient's thalassemia minor state. Sequencing of genomic DNA revealed the presence of distinct β-globin gene mutations. We postulate that in this previously asymptomatic individual, his dual heterozygous mutation status in conjunction with severe environmental stressors altered his ‘benign’ Hb physiology and resulted in an acute arterial thrombosis, suggesting a sub classification of β-thal minor into silent and latent categories.

Keywords:

• Thalassemia minor
• Mutation
• Thrombosis
• Splenic infarct