Hb Manitoba [α102(G9)Ser→Arg] in Pasifika: Tongan Case Report

Abstract

Hb Manitoba [α102(G9)Ser→Arg] results from an AGC>CGC or AGC>AGA substitution at codon 102 of the HBA1 or HBA2 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 (HBA2: c.309C>A) coinherited with the –α^3.7 (rightward) deletion.

Keywords:

• –α^3.7 deletion
• capillary zone electrophoresis
• Hb Manitoba
• Pasifika
• Tongan

Acknowledgments

The authors thank Professor Stephen O. Brennan, Canterbury Health Laboratories, Christchurch, for the mutation analysis.

Disclosure statement

The authors report no conflict of interest. The authors alone are responsible for the content and writing of this article.