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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

Zygosity

Phenotype

Count

Cum

Cum (%)

Homozygous

β+ / β+

97

97

0.354

β0 / β0

116

213

0.777

cHet

β+ / β0

26

239

0.872

β0 / β0’

11

250

0.912

Het or cHet w/ SNP

β+ / HbS, C, E

4

254

0.927

β+ / (SNP)

6

260

0.949

β0 / (SNP)

13

273

0.996

Other

HbE / SNP

1

274

1.000

  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
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BMC Medical Genetics

ISSN: 1471-2350

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