Assuntos
Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais , Globinas beta/genética , Adulto , Anemia Falciforme/diagnóstico , Contagem de Células Sanguíneas , Cromatografia Líquida de Alta Pressão , Variação Genética , Hemoglobina Falciforme/genética , Hemoglobinas Anormais/genética , Humanos , Lactente , Pessoa de Meia-Idade , MutaçãoRESUMO
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) AlaâPro], 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.