Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.
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.
Warang
Prashant
P
National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
Nair
Sona
S
Nadkarni
Anita
A
Ghosh
Kanjaksha
K
Colah
Roshan B
RB
D000743:Anemia, Hemolytic / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C406703:hemoglobin Sallanches; D006447:Hemoglobin H