Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0162316 (
iron deficiency anemia
)
3,806
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Patients with Turner's syndrome are at risk of
X-linked recessive
disorders. We report a case of a young girl with Turner's syndrome with persistent mildly abnormal coagulation studies associated with a mild to moderate bleeding diathesis. The abnormalities were initially attributed to intrahepatic cholestasis and were partially responsive to vitamin K. After an interval of several years an episode of unexplained
iron deficiency anaemia
prompted re-investigation of the mild coagulopathy. Disproportionate reduction in the factor IX concentration and restoration of haemostasis with factor IX concentrate lead to a revised provisional diagnosis of mild haemophilia B which was subsequently confirmed by sequencing the factor IX gene.
...
PMID:Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome. 1699 30
