Hb Tunis [alpha 2 beta 2 124 (H2)Pro----Ser], a new beta chain variant identified by HPLC.
During a routine hematological investigation of a child from Tunis, a silent hemoglobin variant was discovered by isoelectric-focusing. This variant was not detectable by conventional electrophoretic methods, had normal stability, expression, and oxygen affinity, and did not produce any clinical symptoms. This new variant beta 124(H2)Pro----Ser was named Hb Tunis.
Mrad
A
A
Hôpital Habib Thameur, Tunis, Tunisie.
Blouquit
Y
Y
Lacombe
C
C
Blibech
R
R
Arous
N
N
Bardakdjian
J
J
Kastally
R
R
Rosa
J
J
Galacteros
F
F
D000596:Amino Acids / Q000032:analysis*; D002648:Child; D002851:Chromatography, High Pressure Liquid; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C056330:hemoglobin Tunis