title: Acute splenic infarct in beta-thalassemia minor: a novel combination of heterozygous beta-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 alpha- and beta-thalassemia (alpha- and beta-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 beta-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 beta-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 beta-thal minor into silent and latent categories.
authors: Hospitalist Program, Department of Medicine, Lehigh Valley Hospital, Allentown, Pennsylvania 18103, USA. danny_c.liaw@lvh.com
authors: Danny C
authors: DC
authors: Liaw
authors: Adam
authors: A
authors: Kotkiewicz
authors: Mark A
authors: MA
authors: Kender
mesh_terms: D000208:Acute Disease; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013159:Splenic Infarction / Q000209:etiology / Q000473:pathology*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D055544:beta-Globins