Beta-thalassemia-X-linked thrombocytopenia syndrome

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



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001873 Thrombocytopenia Very frequent (99-80%)
HP:0001892 Abnormal bleeding Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0011869 Abnormal platelet function Very frequent (99-80%)
HP:0011902 Abnormal hemoglobin Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GATA1 GATA binding protein 1 2623