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A combination of two novel alpha globin variants Hb Bridlington (HBA1) and Hb Taybe (HBA2) resulting in severe hemolysis, pulmonary hypertension, and death

Lookup NU author(s): Dr James Lordan

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Abstract

Objective and importance: To describe two novel hemoglobin mutations that resulted in an unstable hemoglobin with a severe hemolytic phenotype.Clinical presentation: A patient with an unstable hemoglobin and chronic hemolysis underwent splenectomy at age 15, subsequently developing chronic thrombo-embolic pulmonary hypertension at age 27 that was ultimately fatal.Intervention: DNA sequencing of the alpha globin gene revealed heterozygous inheritance of Hb Taybe, arising from a novel mutation in the HBA2 gene and Hb Bridlington, a novel HBA1 mutation. Greater disease severity is predicted by the position of the Hb Taybe mutation on the HBA2 gene (which transcribes more globin than the HBA1 gene).Conclusion: Splenectomy was not clearly beneficial and may have contributed to the development of pulmonary hypertension. The case favors a cautious approach when considering splenectomy for patients with Hb Taybe.


Publication metadata

Author(s): Hill QA, Farrar L, Lordan J, Gallienne A, Henderson S

Publication type: Article

Publication status: Published

Journal: Hematology

Year: 2015

Volume: 20

Issue: 1

Pages: 50-52

Print publication date: 01/01/2015

ISSN (print): 1024-5332

ISSN (electronic): 1607-8454

Publisher: Maney Publishing

URL: http://dx.doi.org/10.1179/1607845414Y.0000000164

DOI: 10.1179/1607845414Y.0000000164


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