sickle cell-hemoglobin d disease syndrome
A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
MONDO:0002254
syndromic disease
is_a
MONDO:0019050
inherited hemoglobinopathy
is_a
HbSD disease
exact
sickle cell - haemoglobin D disease
related
sickle cell - hemoglobin D disease
related