Indian Journal of Pathology and Microbiology
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Year : 2019  |  Volume : 62  |  Issue : 2  |  Page : 323-325

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

1 Department of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, India
2 Department of Hematogenetics, National Institute of Immunohematology, Mumbai, Maharashtra, India

Correspondence Address:
Amar Das Gupta
Section of Hematology, SRL Limited, Prime Square Building, Gaiwadi Industrial Estate, S. V. Road, Goregaon West, Mumbai - 400 062, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_218_18

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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.

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