A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer.
A 5-year-old male patient with X-linked alpha-thalassemia/mental retardation syndrome is reported. He showed multiple minor anomalies including characteristic facial abnormalities, alpha-thalassemia, severe mental retardation, and hypogonadism. Analysis of his hemoglobin by high performance liquid chromatography using an automated glycated hemoglobin analyzer revealed an abnormal peak. Identification of an abnormal peak by an automated glycated hemoglobin analyzer will aid in the diagnosis of patients with X-linked alpha-thalassemia/mental retardation syndrome.
Kuno
T
T
Department of Pediatrics, Saga Medical School, Japan. kuno@post.saga-med.ac.jp
Ideguchi
H
H
Yoshida
N
N
Masuyama
T
T
Ohta
M
M
Nishimura
S
S
Tasaki
H
H
Miyazaki
S
S
Hara
H
H
Matsumoto
K
K
D000015:Abnormalities, Multiple / Q000097:blood*; D002675:Child, Preschool; D008040:Genetic Linkage; D006443:Hemoglobin A2 / Q000032:analysis*; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D008607:Intellectual Disability / Q000097:blood* / Q000235:genetics; D008297:Male; D013577:Syndrome; D014960:X Chromosome; D017085:alpha-Thalassemia / Q000097:blood* / Q000235:genetics
D006443:Hemoglobin A2; D006447:Hemoglobin H