Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG)

Abstract

Family members in multiple generations of an Irish-American family were investigated for moderate to severe microcytic anaemia, inherited in an autosomal dominant fashion. A novel frameshift mutation of the β globin gene was discovered. This study highlights the importance of considering dominantly inherited β thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with β thalassaemia.