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Diamond-Blackfan Anemia Panel

Diamond-Blackfan Anemia Panel

Diamond-Blackfan anemia is a haematological disorder that affects the bone marrow, the site of production of blood cells. This rare form of congenital anemia prevents the proper maturation and production of red blood cells, resulting in a severe decrease in hemoglobin, the protein responsible for transporting oxygen to tissues. DBA occurs from birth or in the first months of life and is associated with congenital malformations and an increased risk of developing neoplasms, in particular myelodysplastic syndromes, acute myeloid leukemia and osteosarcoma.
Congenital malformations, which affect approximately half of DBA sufferers, include microcephaly, altered facial features, cardiac and renal abnormalities and hypospadias in males. Developmental delay may also appear.
Although this disease predominantly affects the red cell line, platelets and white blood cells may also occur in lower than normal concentrations.
DBA is caused by mutations in ribosomal proteins in about 80/85% of cases, giving rise to autosomal dominant inheritance. In the remaining cases, the mutations are sporadic (i.e. not inherited from a parent carrying a genetic anomaly), or linked to unknown genes.
Studies hypothesize that non-functioning ribosomes may increase the self-destruction of bone marrow cells (hence anemia), with the possible association of impaired regulation of cell division and apoptosis.
This panel analyzes the main genes linked to the onset of Diamond-Blackfan anemia.
Prix habituel €49.00 EUR
Prix habituel Prix soldé €49.00 EUR
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Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.