Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/D-Punjab

http://scdontology.h3abionet.org/ontology/SCDO_1000050

Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin D-Punjab (HBB Glu121Gln) variants.

Term info

curator note

Hemoglobin Genotype S/D-Punjab

definition source

Torres LS, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2): 120–126. pmid:25818823

existence in other ontologies

None

beta6Glu>Val/beta121Glu>Gln, S/D-Punjab Genotype, Haemoglobin Genotype S/D-Punjab

Term relations

Subclass of:

Hemoglobin Genotype SD

Related from:

HBB, GLU6VAL
HBB, GLU121GLN

Sickle Cell Disease-S/D-Punjab