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

Autori
Turudić, Daniel ; Kelečić, Jadranka ; Omerza, Lana ; Vuković, Jurica ; Bilić, Marko ; Bilić, Ernest

Izvornik
Haemophilia (Oxford) (1351-8216) 25 (2019), 6; 368-369

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo uredniku, znanstveni

Ključne riječi
haemophilia ; Shwachman‐Diamond syndrome

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA