Sidhwa Kainaz, Daruwalla Manisha Ramani, Pawar Ravikiran, Nadkarni Anita, Hariharan Priya, Mehta Pallavi, Gupta Amar Das
Department of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, India.
Department of Hematogenetics, National Institute of Immunohematology, Mumbai, Maharashtra, India.
Indian J Pathol Microbiol. 2019 Apr-Jun;62(2):323-325. doi: 10.4103/IJPM.IJPM_218_18.
Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Here, we describe a case of Hb fontainebleau detected in heterozygous condition in a 19-year-old primigravida. Her husband was found to have a double heterozygous state for HbQ India and beta-thalassemia trait. This opens up the possibility of multiple combinations of hemoglobinopathies in the offspring.
α珠蛋白链变异本身不会导致严重的发病和死亡，但与β珠蛋白链变异共同遗传时，可改变（通常是改善）后者的临床表现。它们还对高效液相色谱直方图的解读构成挑战，需要进行分子分析以进行准确鉴定。血红蛋白（Hb）枫丹白露是一种罕见的α珠蛋白链变异[α21（B2）丙氨酸→脯氨酸]，过去印度仅报道过三个家系。在此，我们描述了一名19岁初产妇杂合状态下检测到的Hb枫丹白露病例。发现她的丈夫为HbQ印度和β地中海贫血性状的双重杂合状态。这增加了后代出现多种血红蛋白病组合的可能性。
