What is it about?
Congenital erythrocytosis represents an uncommon and hereditary disease. It can be caused by high oxygen affinity hemoglobin variants. Whole exome sequencing can be applied to identify the causative mutation in congenital erythrocytosis.
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Why is it important?
Prognostic evaluations and management of congenital erythrocytosis patients should be personalized. The benefit-risk ratio of each therapeutic strategy should be evaluated according to different causes.
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This page is a summary of: First Description of Hb San Diego (HBB: c.328G>A) in a Chinese Family with Congenital Erythrocytosis, Hemoglobin, March 2019, Taylor & Francis,
DOI: 10.1080/03630269.2019.1615940.
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