Hemoglobin J-Chicago (beta76(E20) Ala yields Asp): a new hemoglobin variant
resulting from substitution of an external residue
PL Romain, AD Schwartz, M Shamsuddin, JG Adams , RG Mason, LN Vida and GR Honig
An electrophoretically fast-moving hemoglobin variant was found in a 2-
yr-old boy who was referred for evaluation with findings of iron deficiency
anemia. The anemia was corrected, and no hematologic abnormality remained
after treatment with iron. Oxygen affinity of the blood was normal, and no
evidence was found of instability of the variant hemoglobin. Structural
studies demonstrated a substitution of aspartic acid for alanine at beta76
(E20). This change did not appear to cause any functional disruption of the
hemoglobin in this patient, as would be predicted by the position of the
affected animo acid residue on the surface of the molecule.
Volume 45,
Issue 3,
pp. 387-393,
03/01/1975
Copyright © 1975 by The American Society of Hematology