engleski

A child with haemophilia A and Shwachman‐ Diamond syndrome with literature review of combined haematologic diseases in children

We describe a unique case of an 8‐month‐old male child with two different and genetically unrelated entities. Haemophilia A (HA) is caused by a deficiency of functional plasma clotting fac‐tor VIII (FVIII) with X‐linked recessive traits, while inheritance of Shwachman‐Diamond syndrome (SDS) follows autosomal recessive biallelic mutations in DNA JC21 (c.183_184delTAinsCT) with exo‐crine pancreatic insufficiency, impaired hematopoiesis and leukae‐ mia predisposition. These two separate diseases combined together present a challenge to a physician regarding their combined clinical presentation and ambiguous prognosis. Hence, in this Letter we present an example of complex clarification of genetically combined haematologic cases.

haemophilia ; Shwachman‐Diamond syndrome

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