微细胞增多
医学
地中海贫血
低色素性贫血
血红蛋白病
贫血
血红蛋白
胃肠病学
内科学
儿科
溶血性贫血
缺铁
作者
Andrei A. Petrenko,Pivnik Av,P P Kim,E. Yu. Demidova,В. Л. Сурин,А О Абдуллаев,Andrey Sudarikov,Н. А. Петрова,S. A. Maryina
标识
DOI:10.26442/terarkh2018907105-109
摘要
Thalassemia and qualitative hemoglobinopathy are hereditary disorders of Hb synthesis that lead to change in the Hb conformation or a decrease in the synthesis of structurally normal Hb, and consequently, to erythron pathology. Many variants of Hb are unstable or have altered affinity for oxygen, and, in heterozygous form can be associated with clinical and hematological manifestations (hemolytic anemia, hypochromic microcytic anemia, erythrocytosis). HbD-Punjab [β121 (GH4) Glu → Gln; HBB: C.364G> C] is variant of Hb carrying the amino acid substitution in the 121 position of β-globin chain. In all cases reported so far, patients with HbD-Punjab/β+-thalassemia (IVSI+5 G-C) combination experienced typical thalassemia with hypochromic microcytosis. HbD-Punjab was detected by electrophoresis from 37 to 94% of total Hb. The article describes rare clinical case of the cohabitation of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in a patient with homozygous variant of Gilbert's syndrome observed in AS Loginov Moscow Clinical Scientific Center.
科研通智能强力驱动
Strongly Powered by AbleSci AI