Associated Papers
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients.
Van Laer C et al.
Acta Clinica Belgica, 2014
Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G].
Silva MR et al.
Annals of Hematology, 2012
Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: incidence of 1:11,500 in a newborn screening program in Brazil.
Silva MR et al.
Hemoglobin, 2012
Homozygous Hb Stanleyville-II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype -α 3.7/-α 3.7 in two Brazilian families.
Pimentel FS et al.
International Journal of Laboratory Hematology, 2011
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Moradkhani K et al.
Annals of Hematology, 2009
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