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.


Writing this article was a great pleasure. It is hoped that data on such patients could be entered into international databases to accumulate more information on long-term outcomes. This article also leads to rare hereditary red cell disease groups contacting me and ultimately to a greater involvement in rare disease research.

huixia xiong
1.Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, People’s Republic of China 2.

Read the Original

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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