Hb Santa Juana (β 108(G10) Asn > Ser): a low oxygen affinity hemoglobin variant in a family of Bosnian background

We present a family that carries the beta-hemoglobin variant Hb Santa Juana (HBB:c.326A>G, beta 108(G10) Asn>Ser), also known as Hb Serres, in three generations. All affected family members had an anomal hemoglobin fraction as detected by HPLC but normal blood count without evidence of anemia or hemolysis. Oxygen affinity (p(50) (O-2) = 31.9-40.4 mmHg) was decreased in all probands, compared to 24.9-28.1 mmHg in unaffected individuals. Clinical symptoms likely related to the hemoglobin variant were cyanosis during anaesthesia, while other complaints such as shortness of breath or dizziness were less clearly linked with the hemoglobin variant.

Automated summary

This article presents a family with the beta-hemoglobin variant Hb Santa Juana (HBB:c.326A>G, beta 108(G10) Asn>Ser), also known as Hb Serres, spanning three generations. All affected family members had an abnormal hemoglobin fraction as detected by HPLC, but had normal blood count without signs of anemia or hemolysis. Oxygen affinity (p(50) (O-2) = 31.9-40.4 mmHg) was decreased in all probands, compared to 24.9-28.1 mmHg in unaffected individuals. Clinical symptoms likely related to the hemoglobin variant included cyanosis during anesthesia, while other complaints such as shortness of breath or dizziness were less clearly linked with the hemoglobin variant.