Diamond-Blackfan anemia living on borrowed

blood
ABSTRACT
Diamond-Blackfan anemia (DBA) is a rare condition in pediatric pathology,
with more than 500 cases described in literature, that affects boys and girls
in equal numbers. It is a congenital eritroblastopenia characterized by a
profound isolated normochromic and usually macrocytic anemia with normal
leukocytes and platelets, congenital malformations in approximately 50% of
affected children, and growth retardation in 30% of those affected. DBA is a
disorder of ribosome biogenesis and the only known disorder characterized
by mutations in structural ribosomal proteins. People with DBA have
symptoms common to all other types of anemia, including pale skin, physical
and mental fatigue, tachycardia and irregular heartbeats. However, about 30
to 47% of those with DBA have birth defects or abnormal features involving
the face, head, and hands, heart and genito-urinary system. Many children
are short for their age and might start puberty later than normal. The
following laboratory findings are observed in most pacients with DBA :
increased red cell mean corpuscular volume (MCV), elevated erythrocyte
adenosine deaminase activity (eADA) (observed in 80%-85%), elevated
hemoglobin F (HbF) concentration. Bone marrow aspirate shows
normocellular bone marrow with: erythroid hypoplasia, marked reduction in
normoblasts, persistence of pronormoblasts on occasion, normal myeloid
precursors and megakaryocytes.
Treatment includes corticosteroids , transfusions of blood or bone marrow
transplantation . Lately, increased attention is given to this rare
hematopoietic disorder, allowing scientific inquiry to create opportunities for
progress in its understanding and treatment.

Benchia Diana

Ciocan Roxana
Secrieru Oana-Manuela
Medicina Generala, anul III, seria D, grupa 45