A new case of haemoglobin Bucuresti in a Cuban family: further functional studies.
A new case of haemoglobin Bucuresti beta 42 (CD1) Phe yields Leu is described in a Cuban family. The functional studies confirm the results already described--a low oxygen affinity and a decreased haem-haem interaction. In addition to this, the reactivity for 2, 3 diphosphoglycerate (2, 3 DPG) was shown to be normal. The instability is mostly due to a fast rate of haemichromes formation.
D000328:Adult; D000595:Amino Acid Sequence; D003462:Cuba; D004163:Diphosphoglyceric Acids / Q000097:blood; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010101:Oxygen Consumption; D010375:Pedigree; D010455:Peptides / Q000032:analysis
D004163:Diphosphoglyceric Acids; D006455:Hemoglobins, Abnormal; D010455:Peptides