Sharma Sunita, Sharma Geetika, Chandra Jagdish, Colah Roshan
Department of Pathology, Lady Hardinge Medical College and Hospital, New Delhi, India.
Indian J Pathol Microbiol. 2016 Jan-Mar;59(1):99-101. doi: 10.4103/0377-4929.174844.
Haemoglobin (Hb) Agenogi is clinically asymptomatic, rare β-globin chain variant characterized by a substitution of glutamic acid by lysine at position 90 of β-chain. It elutes in the C-window on high-performance liquid chromatography (HPLC). We report a 10-year-old male with easy fatigability, lethargy, pallor, and mild splenomegaly. Hematological parameters revealed microcytic hypochromic anemia and mildly raised red blood cells count, suggestive of thalassemia trait. On HPLC, a predominant peak was observed in the C-window (82.6%) along with raised HbA 2 level (9.3%). Based on these findings, a possibility of HbC disease/β-thalassemia trait doubly heterozygous was considered. Family studies were advised. HPLC findings in father were suggestive of β-thalassemia trait, while both his mother and brother had an abnormal peak in the C-window of 42.7% and 40.8%, respectively, with elevated HbA 2 values of 5% and 4.9%, respectively. Direct DNA sequencing revealed intervening sequences 1-5 (G ; C) in father, confirming β-thalassemia trait. His mother and brother had heterozygous gene mutation at codon 90 of β-globin chain (G ; A) suggestive of Hb Agenogi. The child carried mutations for both β-thalassemia trait as well as Hb Agenogi.
血红蛋白（Hb）阿格诺吉在临床上无症状，是一种罕见的β珠蛋白链变异体，其特征是β链第90位的谷氨酸被赖氨酸取代。在高效液相色谱（HPLC）上，它在C窗洗脱。我们报告了一名10岁男性，有易疲劳、嗜睡、面色苍白和轻度脾肿大的症状。血液学参数显示小细胞低色素性贫血以及红细胞计数轻度升高，提示地中海贫血特征。在HPLC上，在C窗观察到一个主峰（82.6%），同时HbA2水平升高（9.3%）。基于这些发现，考虑了HbC病/β地中海贫血特征双重杂合的可能性。建议进行家族研究。父亲的HPLC结果提示β地中海贫血特征，而他的母亲和兄弟在C窗分别有42.7%和40.8%的异常峰，HbA2值分别升高至5%和4.9%。直接DNA测序显示父亲有内含子序列1-5（G；C），证实为β地中海贫血特征。他的母亲和兄弟在β珠蛋白链第90密码子处有杂合基因突变（G；A），提示为血红蛋白阿格诺吉。该儿童同时携带β地中海贫血特征和血红蛋白阿格诺吉的突变。
