Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (296 page)

   
Genetics
: Multiple genes appear to be responsible for Fanconi anemia. The genes are dispersed through the genome.

   Fetal Hb is increased (>28%).

   i antigen may be observed.

   Serum alpha-protein levels are frequently elevated.

DIAMOND-BLACKFAN ANEMIA (DBA)

   Definition

DBA is a congenital pure red cell aplasia. It is usually sporadic but may be inherited in an autosomal dominant manner. Onset is before 12 months. DBA is associated with congenital anomalies of the kidneys, eyes, skeleton, and heart. Spontaneous remissions have been observed in 20–30% of cases after months or years.

   Laboratory Findings

   RBC: severe macrocytic, anemia that is refractory to conventional therapies.

   Reticulocytes are <1%.

   WBC, differential white cell count, and platelet count are normal.

   Bone marrow is normocellular but presents with a marked decrease in erythroid precursors. All other cell lines are normal.

   Fetal Hb is increased.

   Adenosine deaminase is increased in RBCs.

   Serum iron and all other hematologic parameters are normal.