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Case Reports
. 2005 Oct;58(10):1110-2.
doi: 10.1136/jcp.2004.023010.

Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG)

H-Y Luo  1 , W Tang, S H Eung, J E Coad, P Canfield, F Keller, E H Crowell Jr, M H Steinberg, D H K Chui
Affiliations
Case Reports

Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG)

H-Y Luo et al. J Clin Pathol. 2005 Oct.

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 beta globin gene was discovered. This study highlights the importance of considering dominantly inherited beta thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with beta thalassaemia.

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Figures

Figure 1
Figure 1
Mother’s peripheral blood smear. Note the anisopoikilocytosis, hypochromia, basophilic stippling, and polychromasia.
Figure 2
Figure 2
Nucleotide sequence of the mother’s β globin gene, codons 88–95. Note the frameshift change, starting at codon 91. The upper sequence is normal. The lower sequence shows a deletion of T (red) in codon 91 (CTG>CGC).
See this image and copyright information in PMC

References

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