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Lookup NU author(s): Dr James Lordan
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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.
Author(s): Hill QA, Farrar L, Lordan J, Gallienne A, Henderson S
Publication type: Article
Publication status: Published
Print publication date: 01/01/2015
ISSN (print): 1024-5332
ISSN (electronic): 1607-8454
Publisher: Maney Publishing
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