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  • 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)

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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)
  1. H-Y Luo1,
  2. W Tang3,
  3. S H Eung1,
  4. J E Coad3,
  5. P Canfield3,
  6. F Keller4,
  7. E H Crowell, Jr5,
  8. M H Steinberg2,
  9. D H K Chui1
  1. 1Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston University School of Medicine, Boston, MA 02118, USA
  2. 2The Center of Excellence in Sickle Cell Disease, Boston University School of Medicine
  3. 3Department of Pathology, West Virginia University Health Sciences Center, Morgantown, WV 26506, USA
  4. 4Department of Pediatrics, West Virginia University Health Sciences Center
  5. 5Department of Medicine, West Virginia University Health Sciences Center
  1. 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

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.

  • Hb, haemoglobin
  • PCR, polymerase chain reaction
  • dominant β thalassaemia
  • β thalassaemia intermedia
  • novel mutation.

https://doi.org/10.1136/jcp.2004.023010

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    Footnotes

    • 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.