HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family.
Hb Chicago is a newly discovered hemoglobin variant which was present in a Black newborn baby and her father. The leucine residue at alpha 136, which normally participates in the contact with the heme group, is replaced by a methionine residue. The two heterozygotes were clinically well with normal hematological data. Isolation of the alpha X and alpha A chains by reverse phase high performance liquid chromatography and hydrolysis of these chains with dilute formic acid at 110 degrees C for 24 hours, followed by separation of the resulting peptides by reverse phase high performance liquid chromatography, greatly facilitated the final identification of the abnormality. The baby and both parents had a -G gamma-G gamma-globin gene arrangement on one chromosome (normal: -G gamma-A gamma-) which explains the high G gamma values in the Hb F of these three persons.
D000595:Amino Acid Sequence; D044383:Black People; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D007930:Leucine / Q000502:physiology; D008715:Methionine / Q000502:physiology
D006455:Hemoglobins, Abnormal; C048108:hemoglobin North Chicago; C050262:hemoglobin Chicago; D008715:Methionine; D007930:Leucine