Associated Papers
Sickling Disorder Caused by Co-Inheritance of Hemoglobin Maputo and Hemoglobin S: Case Report and Review of the Literature.
Loonat S et al.
Hemoglobin, 2025
Case report and characterization of a Brazilian family with a rare hemoglobin variant-Hb Maputo.
Santos EA et al.
Hematology, Transfusion and Cell Therapy, 2024
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL et al.
International Journal of Molecular Sciences, 2024
A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.
Lou J et al.
International Journal of Laboratory Hematology, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.
Lou JW et al.
Hemoglobin, 2014
Clinical and molecular characterization of hemoglobin Maputo [beta 47 (CD6) Asp > Tyr HBB: c.142G > T] and G-Ferrara [beta 57 (E1) Asn > Lys HBB: c.174C > A] in a newborn screening in Brazil.
Silva MR et al.
International Journal of Laboratory Hematology, 2013
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