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Table 4 Configuration of Observed β-Thalassemia Mutations

From: Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis

ZygosityPhenotypeCountCumCum (%)
Homozygousβ+ / β+97970.354
β0 / β01162130.777
cHetβ+ / β0262390.872
β0 / β0’112500.912
Het or cHet w/ SNPβ+ / HbS, C, E42540.927
β+ / (SNP)62600.949
β0 / (SNP)132730.996
OtherHbE / SNP12741.000
  1. “Het” and “cHet” denote “heterozygous” and “compound heterozygous”, respectively, where β(0)/β(0)’ refers to a compound heterozygous configuration comprising 2 different β(0) mutations; “(SNP)” indicates a mutation in possible combination with one of the variants described in the text