Spontaneous mutation of hemoglobin Lufkin in a white boy.
A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.
Department of Pathology and Laboratory Medicine, Long Island Jewish Medical Center, Schneider Children's Hospital, New Hyde Park, NY 11040, USA.
Peihong
P
Hsu
Ding Wen
DW
Wu
Ahna M
AM
Blutreich
Paul J
PJ
Kurtin
James D
JD
Hoyer
Gungor
G
Karayalcin
D002648:Child; D004909:Erythrocyte Indices; D005091:Exons / Q000235:genetics; D005192:Family Health; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D044465:White People / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000208:ethnology* / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C056358:hemoglobin Lufkin