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Case Reports
. 2024 Nov;205(5):1959-1962.
doi: 10.1111/bjh.19715. Epub 2024 Aug 18.

Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation

Victor Marin  1   2 , Yoann Huguenin  3 , Lucile Bessi  4 , Laurent Weinmann  5 , Vanessa Augis  5 , Arnaud Desclaux  6 , Louis Lebreton  1 , Stephanie Dulucq  2   5 , Julian Boutin  1   2
Affiliations
Case Reports

Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation

Victor Marin et al. Br J Haematol. 2024 Nov.

Abstract

The alpha-thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality exists: the gain of alpha genes. The consequence of a gain is an overproduction of alpha-globin chains, which aggravates a beta-thalassaemia trait into an intermedia phenotype (non-transfusion-dependent thalassaemia, NTDT). Here, we report the case of a young girl referred for a beta-NTDT with a combination never described in the literature: a heterozygous beta-thalassaemia mutation associated with a copy number gain of the alpha-globin locus and -alpha 3.7 deletion on the same allele.

Keywords: diagnostic haematology; haemoglobinopathies; haemolytic anaemia.

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References

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