TY - JOUR
T1 - Complex α-thalassemia-like syndrome
T2 - A cause of neonatal normoblastemia
AU - McCormack, Michael K.
AU - Geller, Gary R.
AU - Zak, Solomon
AU - Tukey, David P.
AU - Krivit, William
N1 - Funding Information:
From the Department of Pediatrics and the Dight Institute for Human Genetics, University of Minnesota Medical Center. Supported in part by grants from United States Public Health Service Nos. AM-14470, CA-08832, CA-08101, HL-16833, MH-10679, and the Minnesota Medical Foundation. *Reprint address: Division of Human Genetics, 32 Bishop St., Rutgers, The State University, New Brunswick, N. J. 08903.
PY - 1976/9
Y1 - 1976/9
N2 - A previously unrecognized hypochromic anemia associated with marked normoblastemia during the newborn period is reported. One male and two female siblings and a first cousin had a hypochromic anemia and marked normoblastemia (300 to 900 normoblast index per 100 white blood cells) at birth. Globin chain synthesis studies on peripheral blood of the proband at birth indicated the presence of α-thalassemia trait with possible reduced γ chain synthesis. Studies of globin chain synthesis on the father, two older affected siblings of the proband, and the proband at 1.5 years of age revealed α-thalassemia trait. The data suggest this complex α-thalassemia-like condition as a new syndrome associated with marked neonatal normoblastemia.
AB - A previously unrecognized hypochromic anemia associated with marked normoblastemia during the newborn period is reported. One male and two female siblings and a first cousin had a hypochromic anemia and marked normoblastemia (300 to 900 normoblast index per 100 white blood cells) at birth. Globin chain synthesis studies on peripheral blood of the proband at birth indicated the presence of α-thalassemia trait with possible reduced γ chain synthesis. Studies of globin chain synthesis on the father, two older affected siblings of the proband, and the proband at 1.5 years of age revealed α-thalassemia trait. The data suggest this complex α-thalassemia-like condition as a new syndrome associated with marked neonatal normoblastemia.
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U2 - 10.1016/S0022-3476(76)80548-3
DO - 10.1016/S0022-3476(76)80548-3
M3 - Article
C2 - 956973
AN - SCOPUS:0017096851
SN - 0022-3476
VL - 89
SP - 446
EP - 451
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 3
ER -