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Sickle cell S-D Punjab disease
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Disease definition
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.
ORPHA:251370
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Anesthesia guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
Disability
Disability factsheet
Genetic testing
Guidance for genetic testing
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (42)
- Clinical trial(s) (5)
- Biobank(s) (11)
- Registry(ies) (29)
- Network of experts (5)
Newborn screening
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