Literature DB >> 20113287

Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.

Prashant Warang1, Sona Nair, Anita Nadkarni, Kanjaksha Ghosh, Roshan B Colah.   

Abstract

We report a 6-year-old child with Hb H disease due to homozygosity for Hb Sallanches [alpha104(G11)Cys-->Tyr], an unstable alpha2 chain variant. This child presented with a hemolytic anemia of intermediate severity and had never been transfused. This variant often remains undetected in the heterozygous state.

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Year:  2010        PMID: 20113287     DOI: 10.3109/03630260903547526

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.

Authors:  Ranjeet Singh Mashon; Sona Nair; Pratibha Sawant; Roshan B Colah; Kanjaksha Ghosh; Sheila Das
Journal:  Indian J Hum Genet       Date:  2013-07
  1 in total

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