SHORT REPORT
Dominantly inherited ß thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the ß globin gene: Hb morgantown (ß91 CTG>CG)
1 Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston University School of Medicine, Boston, MA 02118, USA
2 The Center of Excellence in Sickle Cell Disease, Boston University School of Medicine
3 Department of Pathology, West Virginia University Health Sciences Center, Morgantown, WV 26506, USA
4 Department of Pediatrics, West Virginia University Health Sciences Center
5 Department of Medicine, West Virginia University Health Sciences Center
Correspondence to:
Correspondence to:
Dr D H K Chui
Hemoglobin Diagnostic Reference Laboratory, Evans 248, Boston Medical Center, 88 East Newton Street, Boston, MA 02118, USA; david.chui{at}bmc.org
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 ß globin gene was discovered. This study highlights the importance of considering dominantly inherited ß thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with ß thalassaemia.
Abbreviations: Hb, haemoglobin; PCR, polymerase chain reaction
Keywords: dominant ßthalassaemia; ßthalassaemia intermedia; novel mutation.
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