1.
Hemoglobin
; 36(4): 395-8, 2012.
Article
in English
| MEDLINE
| ID: mdl-22680346
ABSTRACT
We describe a Chinese newborn who was assumed to have α(0)-thalassemia (α(0)-thal) by determining the amount of Hb Bart's (γ4) in the cord blood, but was later shown to have only α(+)-thal. Hb J-Wenchang-Wuming [α11(A9)LysâGln (AAG>CAG) (α2 or α1)] was mistaken for Hb Bart's as both hemoglobin (Hb) variants have the same mobility.
Subject(s)
Electrophoresis, Capillary/methods , Hemoglobins, Abnormal/genetics , Neonatal Screening/methods , alpha-Thalassemia/genetics , DNA Mutational Analysis , Humans , Infant, Newborn , Polymerase Chain Reaction/methods , Reproducibility of Results , Sensitivity and Specificity , alpha-Thalassemia/diagnosis
2.
Hemoglobin
; 36(3): 289-92, 2012.
Article
in English
| MEDLINE
| ID: mdl-22432594
ABSTRACT
We report a novel case of Hb Phnom Penh [α117(GH5)Phe-Ile-α118(H1)Thr (α1)] detected through cord blood screening for hemoglobinopathies. Sequence analyses identified this in-frame mutation at codons 117/118 (+ATC) in exon 3 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).