智利血红蛋白[β28（B10）亮氨酸→甲硫氨酸]：一种与慢性高铁血红蛋白血症以及磺胺类药物或亚甲蓝诱导的溶血性贫血相关的不稳定血红蛋白。

Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia.

作者信息

Hojas-Bernal R, McNab-Martin P, Fairbanks V F, Holmes M W, Hoyer J D, McCormick D J, Kubik K S

机构信息

Facultad de Medicina, Universidad de Chile, Departamento de Medicina Interna, Hospital Clinica San Borja-Arriaran, Santiago.

出版信息

Hemoglobin. 1999 May;23(2):125-34. doi: 10.3109/03630269908996157.

DOI:10.3109/03630269908996157

PMID:10335980

Abstract

Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an accelerated rate. We report an unstable hemoglobin with these characteristics that was observed in a family of indigenous (native American) origin living near Santiago, Chile. This variant has the substitution beta28(B10)Leu-->Met, unambiguously corresponding to the DNA mutation of CTG-->ATG in beta-globin gene codon 28.

摘要

导致终生发绀的原因包括

因M血红蛋白引起的先天性高铁血红蛋白血症、因高铁血红蛋白还原酶缺乏引起的先天性高铁血红蛋白血症、少数低氧亲和力血红蛋白以及少数在体内能以加速速率自发形成高铁血红蛋白的不稳定血红蛋白。我们报告了在一个居住在智利圣地亚哥附近的土著（美洲原住民）家庭中观察到的一种具有这些特征的不稳定血红蛋白。该变体发生了β28（B10）亮氨酸→甲硫氨酸的替换，明确对应于β珠蛋白基因密码子28处CTG→ATG的DNA突变。