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)
- H-Y Luo1,
- W Tang3,
- S H Eung1,
- J E Coad3,
- P Canfield3,
- F Keller4,
- E H Crowell, Jr5,
- M H Steinberg2,
- D H K Chui1
- 1Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston University School of Medicine, Boston, MA 02118, USA
- 2The Center of Excellence in Sickle Cell Disease, Boston University School of Medicine
- 3Department of Pathology, West Virginia University Health Sciences Center, Morgantown, WV 26506, USA
- 4Department of Pediatrics, West Virginia University Health Sciences Center
- 5Department of Medicine, West Virginia University Health Sciences Center
- 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.chuibmc.org
- Accepted 25 January 2005
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.
Footnotes
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The current address for W Tang is Division of Hematopathology, Department of Pathology, University of North Carolina School of Medicine, Chapel Hill, NC 27514, USA.H-Y Luo and W Tang contributed equally to this work.
