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American J Hematol - 2019 - Bain

The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

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30 views1 page

American J Hematol - 2019 - Bain

The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

Uploaded by

bassam alharazi
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Received: 16 August 2019 Accepted: 19 August 2019

DOI: 10.1002/ajh.25623

MORPHOLOGY UPDATE

Delta beta thalassemia

Barbara J. Bain

Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK

Correspondence
Barbara J. Bain, Department of Haematology, St Mary's Hospital, Praed Street, London, W2 1NY. UK.
Email: [email protected]

A 19-year-old woman of Lebanese ethnic origin was referred for heterozygosity with β thalassemia can lead to thalassemia intermedia. It
investigation of microcytosis. Her blood count showed: red cell count might be expected that the hemoglobin A2 would be reduced since one
5.32 × 10 /L, hemoglobin concentration 116 g/L, mean cell volume
12
δ gene has been deleted but in fact it is often normal. Hemoglobin F is
70 fL, mean cell hemoglobin 21.8 pg and mean cell hemoglobin con- usually between 5 and 20%.
centration 312 g/L. Her blood film showed microcytosis, mild hypo-
chromia and poikilocytosis. The poikilocytes included elliptocytes (left
Image) and small numbers of irregularly contracted cells (right Image). CONFLIC T OF INT ER E ST

There were only occasional target cells. Thalassemia trait was Nothing to report.
suspected and high performance liquid chromatography (HPLC) was
performed. Hemoglobin A2 was normal at 2.8%, but hemoglobin F, as
quantified by the Bio-Rad Variant II instrument (unmodified hemoglo- OR CID
bin F), was increased to 11.8%; the total hemoglobin F was about
Barbara J. Bain https://orcid.org/0000-0003-3077-4579
14% if acetylated F, which is not integrated by the instrument, was
included. The likely diagnosis now became δβ thalassemia. This diag-
nosis was confirmed by Gap-PCR which showed heterozygosity for
the Sicilian δβ thalassemia deletion mutation. How to cite this article: Bain BJ. Delta beta thalassemia. Am
The diagnosis of δβ thalassemia is important, particularly in a J Hematol. 2020;95:116. https://doi.org/10.1002/ajh.25623
patient in the reproductive age range, since homozygosity or compound

116 © 2019 Wiley Periodicals, Inc. wileyonlinelibrary.com/journal/ajh Am J Hematol. 2020;95:116.

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