Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications.
We have studied three sickle cell anemia patients who also carried a heterozygosity for one of the following alpha chain abnormalities: Hb G-Philadelphia [alpha 68(E17)Asn-->Lys], Hb Montgomery [alpha 48 (CE6)Leu-->Arg], and Hb Chicago [alpha 136(H19)Leu-->Met]. Electrophoretic analyses alone may result in incomplete and incorrect information. Confirmation of the diagnosis of Hb SS or Hb SC disease by one of the fast high performance liquid chromatographic procedures is recommended.
Gu
L H
LH
Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta 30912-2100.
Wilson
J B
JB
Molchanova
T P
TP
McKie
K M
KM
McKie
V C
VC
Huisman
T H
TH
D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications* / Q000235:genetics; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing
D006455:Hemoglobins, Abnormal; C050262:hemoglobin Chicago; C035048:hemoglobin Montgomery; D005914:Globins; C031679:hemoglobin G Philadelphia