Sickle Cell Disease Ontology Project

Dominant Sickle Cell Disease

http://scdontology.h3abionet.org/ontology/SCDO_1000211

Clinical sickle cell disease in the heterozygous state due to an additional mutation on the same allele as the beta S mutation.

Term info

created by

Jade Hotchkiss

creation date

2018-09-07T00:02:43.39Z

curator note

Hemoglobin Jamaica Plain is an example of an abnormal hemoglobin structure caused by a double mutation in 1 Hb allele.

dc:creator

SCDO (Jade Hotchkiss)

dc:source

http://wwwuptodatecom.uptodate.sdsl.yuntsg.cn:2222/contents/overview-of-variant-sickle-cell-syndromes

definition source

http://wwwuptodatecom.uptodate.sdsl.yuntsg.cn:2222/contents/overview-of-variant-sickle-cell-syndromes

Dominant Sickle Syndrome, Symptomatic Sickle Cell Trait, Dominant Sickle Cell Syndrome, Dominant Sickle Cell Disease

rdfs:comment

Often these individuals have co-inherited another hemoglobin mutation that decreases hemoglobin solubility (eg, HbS-Antilles; Hb-Quebec-Chori; HbS-Oman; Hb Jamaica Plain). Other rare causes of symptomatic sickle cell trait include: mosaicism for cells in which only the sickle mutation was expressed due to post-zygotic uniparental disomy, and when sickle cell trait coexists with pyruvate kinase deficiency, which lowers the hemoglobin oxygen affinity, resulting in hemoglobin S polymerization and sickling.

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