title: Hemoglobin Sunshine Seth - alpha 2 (94 (G1) Asp replaced by His) beta 2.
abstract: Hemoglobin Sunshine Seth in which a histidyl is substituted for an aspartyl residue at position 94 of the alpha chain was detected at birth in a Caucasian male infant during cord blood screening and is present also in the mother and a male sibling. Although the substitution is in the alpha 1 beta 2 contact, it is without obvious deleterious effect on the hematological parameters or the health of the affected individuals.
mesh_terms: D000596:Amino Acids / Q000032:analysis; D001224:Aspartic Acid / Q000032:analysis; D002675:Child, Preschool; D005260:Female; D005312:Fetal Blood / Q000032:analysis*; D005914:Globins / Q000302:isolation & purification; D006403:Hematologic Tests; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006639:Histidine / Q000032:analysis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010446:Peptide Fragments / Q000302:isolation & purification; D011247:Pregnancy
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D001224:Aspartic Acid; D006639:Histidine; D005914:Globins