IDENTIFICATION OF ABNORMAL HEMOGLOBIN KOLN (β98 (FG-5) VAL→MET) : THE FOURTH HB KOLN VARIANT FOUND IN JAPAN
In 1977 an electrophoretically slow moving abnormal hemoglobin (6 per cent of total hemoglobin) was detected by cellulose acetate membrane electrophoresis (pH 8.6) from a 28 yr-old female with slight jaundice and splenomegaly. Structural analyses of the hemoglobin demonstrated its identity with Hb Koln (β98 Val→Met). The results of physical, and hematological examination and functional studies of the hemoglobin were consistent with Hb Koln disease. The parents of the propositus were negative for Hb Koln, but a daughter (2 yr-old), only one her child was the carrier of the same abnormal hemoglobin. This family was the fourth independent Hb Koln disease described up to date in Japan.