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.