Benign congenital erythropenia

Area of Science:

• Hematology
• Pediatric Medicine
• Genetics

Background:

• Congenital anemia presents diagnostic challenges in early infancy.
• Normochromic anemia requires investigation into underlying causes, including enzyme deficiencies.

Observation:

• Two brothers presented with normochromic anemia and atrial septal defects.
• Skeletal malformations were noted in both affected siblings.
• Persistent low-normal hemoglobin and red blood cell counts were observed.

Findings:

• Patients and parents exhibited low or borderline low erythrocyte enolase levels.
• Erythropoietin and hemoglobin electrophoresis results were within normal ranges.
• The clinical presentation suggests a possible inherited metabolic defect affecting red blood cell production.

Implications:

• Identifies erythrocyte enolase deficiency as a potential cause of congenital anemia.
• Highlights the importance of family screening for enzyme deficiencies in inherited anemias.
• Suggests a mild variant of chronic congenital hypoplastic anemia may be characterized by these findings.