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. 2013 May;98(5):691–695. doi: 10.3324/haematol.2012.065219

Figure 1.

Figure 1.

From left to right (A) pedigree of propositus 1; (B) propositus 2; (C) and propositus 3. Propositi 1, 2 and 3 are indicated by arrows. The sequence pattern for the HBBc.230delCfs mutation in propositus 1 inherited from father appears almost homozygous, a small normal pattern is visible indicating mosaicism (B) propositus 2; almost homozygous for the HBBc.118C>T; a small wild-type peak at the mutated site is visible (C) propositus 3; similar to propositus 2, in addition the common polymorphism present in exon 1 at HBBc.9C>T is also mosaic, indicating the presence of a similar small percentage of the normal allele. MLPA analysis excluded allelic loss as a result of a deletion. These results were reproducible in several independent analyses and DNA isolations.