Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.
We report a novel mutation at alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG), that we have named Hb Dartmouth for the medical center at which the patients were cared for, in monozygotic twins who also inherited the Southeast Asian alpha-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for alpha-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion.
McBride
K L
KL
Department of Pediatrics and Adolescent Medicine, Mayo Clinic and Foundation, Rochester, MN 55905, USA.
Snow
K
K
Kubik
K S
KS
Fairbanks
V F
VF
Hoyer
J D
JD
Fairweather
R B
RB
Chaffee
S
S
Edwards
W H
WH
D000328:Adult; D019943:Amino Acid Substitution; D000751:Anemia, Neonatal / Q000209:etiology / Q000235:genetics*; D002160:Cambodia / Q000208:ethnology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000009:adverse effects / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D014427:Twins; D006113:United Kingdom / Q000208:ethnology; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal