母子保健クリニック

概要

Anemia of Blacfan Diamon in an infant at the Albert Royer National Children's Hospital in Dakar and Review of the Literature

Diagne G, Faye PM, Kane A, Mbaye A, Fattah M, Coundoul AM, Sow S, Bop K, Sow A, Ly ID, Ba ID, Ndiaye O

Blackfan Diamon anemia is the only known congenital erythroblastopenia. Following the discovery of the genes
involved, it has become the leader in ribosomal diseases and this has opened the way to a great deal of basic research
into erythropoiesis. It is defined by severe erythroblastopenia with less than five percent of erythroid precursors in a
single-cell marrow. Blackfan Diamon's anemia manifests early before the age of two and its incidence is low in Africa,
we report a case with early onset in a 03-month-old infant with RPS19 mutation. The diagnosis often remains
difficult due to the unavailability of genetic tests. Corticosteroid therapy was prescribed for two weeks without
significant improvement. The patient is currently on a transfusion routine while awaiting a bone marrow transplant.