博洛尼亚血红蛋白（α2β2 61（E5）位赖氨酸被甲硫氨酸取代）。一种具有低氧亲和力的异常人类血红蛋白。

Hemoglobin bologna (alpha 2 beta 2 61 (E5) lys replaced by met). An abnormal human hemoglobin with low oxygen affinity.

作者信息

Marinucci M, Giuliani A, Maffi D, Massa A, Giampaolo A, Mavilio F, Zannotti M, Tentori L

出版信息

Biochim Biophys Acta. 1981 Apr 28;668(2):209-15. doi: 10.1016/0005-2795(81)90028-3.

Abstract

An abnormal human hemoglobin was found in association with beta-thalassemia in a hemolysate from an 11-year-old healthy child living in Bologna (northern Italy). Structural studies demonstrated a previously unreported amino acid substitution, beta 61 (E5) Lys replaced by Met (this is an external residue). The new variant has been named Hb Bologna, and is characterized by a reduced oxygen affinity. Family studies indicated that the variant had been inherited from the father, a 41-year-old male of Southern Italian origin. Also, a brother of the propositus was found to be an abnormal Hb carrier.

摘要

在一名居住在博洛尼亚（意大利北部）的11岁健康儿童的溶血产物中，发现一种异常人类血红蛋白与β地中海贫血相关。结构研究显示存在一种此前未报道的氨基酸替代，即β61（E5）位的赖氨酸被甲硫氨酸取代（这是一个外部残基）。这种新变体被命名为Hb博洛尼亚，其特点是氧亲和力降低。家系研究表明该变体是从父亲那里遗传而来，父亲是一名41岁的男性，来自意大利南部。此外，先证者的一个兄弟被发现是异常血红蛋白携带者。