Hemoglobin L Ferrara in a Jewish family associated with a hemolytic state in the propositus.

T HE ASSOCIATION of congenital nonspherocytic hemolytic anemia with the presence of certain unstable hemoglobins has been recognized in numerous patients.1 The instability of these hemoglobins has been manifested by precipitation on heating in vitro and by the formation of Heinz bodies with premature destruction of erythrocytes in vivo. The molecular basis for the instability of certain of these hemoglobins has recently been reviewed by Perutz and Lehmann.2 The present report is concerned with the association of a longstanding hemolytic state in only one of seven members of a Jewish family heterozygous for a genetically determined hemoglobin variant, hemoglobin L Ferrara ( Hb LF)3’4 in which glycine replaced aspartic acid at residue a47, interhelical residue aCD5.5 Hemoglobin L Ferrara has been described previously (in an Ashkenazai Jew) as hemoglobin Beilinson;6 one of three family members with Hb Beilinson apparently had leukemia, and the other two were not anemic. The present report includes 1) studies of a Jewish family with Hb L Ferrara, 2) studies of some properties of Hb L Ferrara and 3) the results of attempts to relate the presence of the abnormal hemoglobin to the hemolytic state observed in the propositus.