Sidhwa, KDaruwalla, MRPawar, RNadkarni, AHariharan, PMehta, PGupta, AD2020-04-102020-04-102019-06Sidhwa K, Daruwalla MR, Pawar R, Nadkarni A, Hariharan P, Mehta P, Gupta AD. Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband. Indian Journal of Pathology and Microbiology. 2019 Jun; 62(2): 323-3250377-49290974-5130http://imsear.searo.who.int/handle/123456789/196348Alpha 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.Alpha globin gene variantsantenatal screeningco-inheritance of alpha and beta globin chain variantsHbQ IndiaHemoglobin FontainebleauJournal ArticleIndiaDepartment of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, IndiaDepartment of Hematogenetics, National Institute of Immunohematology, Mumbai, Maharashtra, India