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beta-thalassemia-X-linked thrombocytopenia syndrome

MONDO:0010745

Also known as: X-linked thrombocytopenia with Beta-thalassemia, XLTT, thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive, thrombocytopenia with BETA-thalassemia, X-linked

MONDO:
MONDO:0010745
Orphanet:
231393
Rare disease35 associated genes

Description

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

Associated genes

+25 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.