title: Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.
abstract: 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.
authors: Department of Hematopathology, Christian Medical College, Ludhiana, Punjab, India.
authors: Ranjeet Singh
authors: RS
authors: Mashon
authors: Sona
authors: S
authors: Nair
authors: Pratibha
authors: P
authors: Sawant
authors: Roshan B
authors: RB
authors: Colah
authors: Kanjaksha
authors: K
authors: Ghosh
authors: Sheila
authors: S
authors: Das
keywords: Alpha globin gene variant; hemoglobin Fontainebleau; infertility