Autoszomális recesszív
Caused by changes in both copies of TBXAS1, which encodes thromboxane synthase, an enzyme that produces signalling molecules affecting bone remodelling and the bone marrow. Each parent usually carries one changed copy.
Tünetek és jelek
Increased density and thickening of the long bone shafts, sometimes with bowing of the legs, appears in childhood. Anaemia that does not respond to treatment results from bone marrow scarring. Some people also have systemic inflammation.
Mit változtat a diagnózis
The anaemia and bone marrow changes usually respond well to low-dose corticosteroids, so recognising the condition early matters. Blood counts and bones are monitored over time. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
Más néven
diaphyseal dysplasia-anemia syndrome; GHDD; Ghosal hematodiaphyseal dysplasia syndrome; Ghosal syndrome
