Sickle Cell Disease Ontology Project

Hemoglobin Genotype SD

http://scdontology.h3abionet.org/ontology/SCDO_1000054


Compound heterozygous inheritance of Hb S and Hb D mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb D generally results from substitution of glutamic acid for glutamine at beta-121 (beta121Glu>Gln); such as the Hb D-Punjab/Hb D-Los Angeles variants. There are several other Hb D variants, including Hb D-Iband where threonine is substituted by lysine at beta-87 (beta87Thr>Lys) and Hb D-Iran where glutamic acid is substituted by glutamine at beta-22 (beta22Glu>Gln).

Term info

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SCDO

definition source

https://health.utah.gov/newbornscreening/Disorders/HB/Hb_SD_Disease_SD/FactSheet_Provider_HbSD_En.pdf

Haemoglobin Genotype SD, SD Genotype