Abstract
We report a 43-day-old Bangladesh boy with Hb E disease, early diagnosed by gene analysis. Microcytic hypochromic anemia became severe (MCV 74.0 fl, MCH 24.9 pg) even after his recovery from sepsis, and a blood transfusion was inevitable. Microcytic hypochromia at his birth and his mother's same anemia suggested hereditary Hb abnormality. The 26th codon of the chain was found to be AAG (Lys) instead of GAG (Glu) by a gene analysis of the gene of his beta-globin chain. His mother also had the same abnormal hemoglobinopathy. Hb E disease is popular in Southeast Asia. Foreigners from Southeast Asia has been increasing recently in Japan. Gene analysis is a useful tool to diagnose this disease.
