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Hb H disease

Known as: Hb H-disease 
National Institutes of Health

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Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomHemoglobinopathies conditions suspected:Prid:Pt:Bld.dot:NomNewborn conditions with equivocal markers:Prid:Pt:Bld.dot:NomNewborn conditions with positive markers:Prid:Pt:Bld.dot:Nom

Papers overview

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2015
2015
Homozygosity for the AATAAA > AATA– – Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report
Abstract We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation… 
2009
2009
Hb H disease resulting from the association of an α0-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: First report on the occurrence in Brazil
Hb H Disease is caused by the loss or inactivation of three of the four functional α-globin genes. Patients present chronic… 
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