Hemoglobin Legnano (α2141 (HC3) Arg→Leuβ2): A New Abnormal Human Hemoglobin with High Oxygen Affinity
作者:
MavilioF.,
MarinucciM.,
TentoriL.,
FontanarosaP. P.,
RossiU.,
BiagiottiS.,
期刊:
Hemoglobin
(Taylor Available online 1978)
卷期:
Volume 2,
issue 3
页码: 249-259
ISSN:0363-0269
年代: 1978
DOI:10.3109/03630267809007070
出版商: Taylor&Francis
数据来源: Taylor
摘要:
An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (northern Italy) affected with renal failure and iron deficiency anemia, not related to the presence of the Hb variant. Structural studies have demonstrated a previously undescribed amino acid substitution,α141 Arg→Leu. This new variant has been named Hb Legnano, and is characterized by an increased oxygen affinity and a low cooperativity, at least as far as preliminary functional studies carried out on whole blood have indicated. Family studies are reported: three other heterozygous carriers were observed among the relatives of the propositus, all showing a mild polycythemia which, however, does not seem to produce appreciable clinical consequences.
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