Journal
HEMATOLOGY
Volume 28, Issue 1, Pages -Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/16078454.2023.2184120
Keywords
Hemoglobin; oxygen affinity; hemoglobinopathy
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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.
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.
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