Symptomatic erythrocytosis associated with a compound heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG

Hemoglobin
Susumu InoueMahesh Sharman

Abstract

Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β(0)-thalassemia (β(0)-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β(+)-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of ...Continue Reading

References

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Sep 30, 2009·American Journal of Hematology·Pierre-Olivier GaudreauDenis Soulières

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Citations

Sep 18, 2016·La Revue de médecine interne·O Mangin
May 24, 2018·American Journal of Hematology·Jennifer L OliveiraJames D Hoyer
Jul 11, 2019·The Journal of Physiology·John R A ShepherdMichael J Joyner

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