Hb H Disease Due to Homozygosity for a Rare α2-Globin Variant, Hb Sallanches

Prashant Warang National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus, Mumbai, India

Sona Nair National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus, Mumbai, India

Anita Nadkarni National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus, Mumbai, India

Kanjaksha Ghosh National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus, Mumbai, India

Roshan B. Colah National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus, Mumbai, IndiaCorrespondence[email protected]

Abstract

We report a 6-year-old child with Hb H disease due to homozygosity for Hb Sallanches [α104(G11)Cys→Tyr], an unstable α2 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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Hb H Disease Due to Homozygosity for a Rare α2-Globin Variant, Hb Sallanches

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Hb H Disease Due to Homozygosity for a Rare α2-Globin Variant, Hb Sallanches

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