Abstract 895 Poster Session I, Saturday, 5/1 (poster 283)

We describe the first association of Hemoglobin (Hgb) C & E in an African-American infant who was referred at two months to Children's Hospital for evaluation of abnormal electrophoretic pattern on neonatal screening. She was the product of a full-term C-section delivery following an uneventful antenatal period. Postnatal history was negative for jaundice, anemia or any other significant problem. Her physical exam showed normal physical growth and development. No splenomegaly was detected. Laboratory values are as follows: HG 8.8 gm/dl, HCT 26.0%, RBC 3,650,000/cu mm, MCV 71 fl (< 5th percentile for age), MCH 26.2, MCHC 34.4, RDW 21.1, Retic Count 3.0% (corrected retic 1.8%), bilirubin 0.4 mg/dl, LDH 625 mg/dl (N:429-975). Peripheral smear revealed hypochromia, target cells and anisocytosis. CIE studies showed HgG A 0.0%, F 31.6%, S 0.0%, C 43.2%, E 25.2%. Family studies were as follows: Mother Hgb CA, Father Hgb AE and Sibling Hgb AC. Her clinical course has been uneventful with normal growth and development and without any infections or hematological complications.

Conclusion

We describe a rare association of Hgb C & E in an African-American family. Neonatal screening using standard electrophoretic techniques did not differentiate the E hemoglobin. CIE is a new, very sensitive technique that uses a small amount of neonatal screening and confirmatory studies.