A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr.
Hemoglobin Necker Enfants-Malades was fortuitously found during a systematic measurement of Hb AIc in a diabetic patient. It displays an electrophoretic pattern similar to that of Hb A but can be distinguished by isoelectricfocusing or cation exchange chromatography. Functional studies reveal no abnormal features.
D000596:Amino Acids / Q000097:blood*; D002648:Child; D002852:Chromatography, Ion Exchange; D003920:Diabetes Mellitus; D006441:Hemoglobin A; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007525:Isoelectric Focusing; D010455:Peptides / Q000097:blood*
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010455:Peptides; D006441:Hemoglobin A