Short Communication:Hemoglobin Machida [β6 (A3) Glu → Gln], a New Abnormal Hemoglobin Discovered in a Japanese Family: Structure, Function and Biosynthesis

Abstract

This report describes a new abnormal hemoglobin discovered in a 43-year-old Japanese female living in Machida City, Tokyo Capital City, in October 1981. Hematological study of the propositus, who was clinically healthy, showed neither microcytic hypochromic anemia due to iron deficiency, nor hemolytic tendencies, in spite of slightly decreased serum iron and slightly increased reticulocyte count (WBC 4.3 × 109/1, RBC 4.46 × 1012/1, Hb 13.6 g/dl, PCV 0.388 1/1, MCV 87 fl, MCH 30.8 pg, MCHC 35.2 g/dl, reticulocyte count 1.4%, total bilirubin 0.3 mg/dl, serum iron 65 μg/dl, TIBC 329 μg/dl). Target cells were not seen on peripheral blood smears. Family study disclosed that her son (10 year old) was a carrier of the same abnormal hemoglobin. He was also apparently healthy and hematologically normal.