Hb Mizuho [beta 68(E12)Leu----Pro]. Second occurrence identified in a Caucasian child with hemolytic anemia and dense erythrocyte inclusions.
Hb Mizuho [beta 68(E12)Leu----Pro] was identified in a child of Italian/Sicilian descent who exhibited severe, transfusion dependent hemolytic anemia which improved following splenectomy. The patient's peripheral blood smear, which prior to splenectomy demonstrated coarse erythrocytic basophilic stippling, showed large, dense erythrocytic hemoglobin inclusions following splenectomy. Whole blood oxygen equilibrium results were consistent with the presence of a hemoglobin component exhibiting increased oxygen affinity with decreased cooperativity. The abnormal beta chain was characterized by high performance liquid chromatography analysis of the isopropanol precipitable hemoglobin fraction.
Labotka
R J
RJ
Department of Pediatrics, University of Illinois College of Medicine, Chicago 60612.
Vida
L N
LN
Honig
G R
GR
D000595:Amino Acid Sequence; D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics* / Q000628:therapy; D001803:Blood Transfusion; D004908:Erythrocyte Inclusions; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D013156:Splenectomy; D044465:White People / Q000235:genetics
D006455:Hemoglobins, Abnormal; C066864:hemoglobin Mizuho