Hb Manitoba [α102(G9)Ser→Arg] results from an GC>GC or AG>AG substitution at codon 102 of the or genes. The variant is mildly unstable but carriers typically have normal clinical presentation and hematological profile. Hb Manitoba has not been reported in Pasifika of Tongan, Samoan or New Zealand (NZ) Māori descent before. The cases presented here support the findings from existing literature but include results from alternative methodology including capillary zone electrophoresis (CZE), which may slightly underestimate the true variant percentage. The subject of our case report, a Tongan male with microcytic indices, was shown to be heterozygous for Hb Manitoba III (: c.309C>A) coinherited with the -α (rightward) deletion.
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http://dx.doi.org/10.1080/03630269.2020.1785890 | DOI Listing |
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