Department of Hematopathology, AmPath, Hyderabad, Telangana, India.
Department of Transfusion Medicine, Citizens Hospitals, Hyderabad, Telangana, India.
Indian J Pathol Microbiol. 2020 Jul-Sep;63(3):481-484. doi: 10.4103/IJPM.IJPM_465_19.
HbQ variants are rare alpha globin chain variants commonly found in Sindhi community. It results from a point mutation of α-1 globin gene at position 223 of the coding region of exon 64. It is inherited in an autosomal dominant fashion. HbQ-India is usually clinically silent in heterozygous state unless associated with other conditions like beta thalassemia, alpha thalassemia, HbE disease, or nutritional anemia. High performance liquid chromatography (HPLC) identifies HbQ-India with a prominent peak present just after the Sickle window. We present five cases of HbQ-India from a retrospective analysis of 6034 cases over a period of 3 years, a rarity in a referral setting of South India. Awareness of this entity is important for appropriate recognition to prevent clinically symptomatic hemoglobinopathies. This study also highlights the retention time (RT) and characteristic chromatographic HPLC pattern seen in HbQ-India.
HbQ 变体是罕见的α珠蛋白链变体，常见于信德语社区。它是由于编码区域外显子 64 的第 223 位的α-1 珠蛋白基因的点突变引起的。它以常染色体显性方式遗传。HbQ-India 在杂合状态下通常临床无症状，除非与其他情况相关，如β地中海贫血、α地中海贫血、HbE 病或营养性贫血。高效液相色谱法 (HPLC) 可以识别 HbQ-India，其特征是在镰状窗口后出现一个明显的峰。我们从 3 年内对 6034 例病例的回顾性分析中发现了 5 例 HbQ-India 病例，这在印度南部的转诊环境中较为罕见。了解这种情况对于适当识别以预防临床症状性血红蛋白病非常重要。本研究还强调了 HbQ-India 的保留时间 (RT) 和特征性 HPLC 图谱。
