Belgian Genetic Tests database
Sickle cell-hemoglobin D disease syndrome
| Name: |
Sickle cell-hemoglobin D disease syndrome
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| Description: |
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.
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| ORPHAcode: |
251370
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| Synonyms: |
HbSD disease
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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