Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 352-354
Article
in English
| IMSEAR
| ID: sea-156591
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Hemoglobins, Abnormal
/
Adult
/
Alpha-Globins
/
India
/
Infertility, Female
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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