Imerslund-Grasbeck Syndrome Coexisting with P-Thalassemia Trait

Abstract

A 9-year-old female patient with Imerslund-Gräsbeck syndrome and heterozygosity for β-thahsemia i presented.At admission the hemoglobin (Hb) was 7.2 g/dL; reticulocytes,0.2%; red blood cell count (RBC),2.3 × 10¹² /L; mean corpuscular volume (MCV),80 fL; hemoglobin A₂ (HbA), 4.3%; fetal hemoglobin intervening sequence (IVS) (HbF),1.9%.In the bone marrow aspiration smear, megaloblastic changes were obseroed; the Schilling test was compatible with mahbsorption.DNA anulysi revealed the presence of heterozygosity for the IVS-I-110 type of β-thahsemia mutation.Five months after treatment with vitamin B₁₂, Hb was found to be 12.8 g/dL; RBC,5 × 10¹²/L; MCV,63 fL.

Key Words:

• Imerslund-Gräsbeck syndrome
• β-thalassemia trait