Mashon Ranjeet Singh, Nair Sona, Sawant Pratibha, Colah Roshan B, Ghosh Kanjaksha, Das Sheila
Department of Hematopathology, Christian Medical College, Ludhiana, Punjab, India.
Indian J Hum Genet. 2013 Jul;19(3):352-4. doi: 10.4103/0971-6866.120822.
Structural hemoglobin (Hb) variants are mainly due to point mutations in the globin genes resulting in single amino acid substitutions. Until date, about 200 alpha chain variants have been identified and they are usually detected during the hemoglobinopathy screening programs. Under a community control program for hemoglobinopathies, which involved screening of antenatal cases followed by prenatal diagnosis if indicated. Here, we report a rare alpha globin gene variant Hb Fontainebleau [a21(B2)Ala>Pro] detected in the heterozygous condition in a 35-year-old pregnant lady screened during this program. This is the second report of this alpha globin variant from India. Unlike the earlier case from India where Hb Fontainebleau was reported in a neonate who was also a carrier of Hb Sickle and had no clinical problems, this case presented with a bad obstetric history associated with the secondary infertility. However, the presence of the variant and the obstetric complications may be unrelated.
结构性血红蛋白（Hb）变异主要是由于珠蛋白基因中的点突变导致单个氨基酸替代。迄今为止，已鉴定出约200种α链变异，它们通常在血红蛋白病筛查项目中被检测到。在一个血红蛋白病社区控制项目中，该项目包括对产前病例进行筛查，如有必要则进行产前诊断。在此，我们报告在该项目筛查的一名35岁孕妇中检测到一种罕见的α珠蛋白基因变异Hb枫丹白露 [α21(β2)丙氨酸>脯氨酸]，其为杂合状态。这是该α珠蛋白变异在印度的第二篇报道。与印度之前报道的病例不同，之前报道的是一名新生儿携带Hb枫丹白露，同时也是Hb镰刀型的携带者且无临床问题，而本病例有不良产科病史并伴有继发性不孕。然而，变异的存在与产科并发症可能并无关联。
