Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.
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Date
2013-07
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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.
Description
Keywords
Alpha globin gene variant, hemoglobin Fontainebleau, infertility
Citation
Singh Mashon Ranjeet, Nair Sona, Sawant Pratibha, Colah Roshan B, Ghosh Kanjaksha, Das Sheila. Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 352-354.