Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β-thalassemia / 中华医学遗传学杂志

ABSTRACT

Objective@#To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with β-thalassemia.@*Methods@#Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α- and β-globin genes were also analyzed.@*Results@#The proband and her mother were both heterozygotes for Hb Ottawa and β-thalassemia variant IVS II-654, and presented with typical β-thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis.@*Conclusion@#Co-existence of Hb Ottawa and β-thalassemia may not aggravate the phenotype.