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

• 影响指数: 0.822
• 发表时间: Jul 2020
• 来源期刊: Hemoglobin
• DOI: 10.1080/03630269.2020.1785890
• PMID: 32619111
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 生物
• 作者列表: Pullon BM,Moore JA

关键词: Hb Manitoba; Pasifika; Tongan; capillary zone electrophoresis; –α3.7 deletion

Mesh: Amino Acid Substitution; Biopsy; Codon; Electrophoresis, Capillary; Erythrocytes, Abnormal / pathology; Genotype; Hemoglobins, Abnormal / genetics; Humans; Male; Mutation; Young Adult; alpha-Globins / genetics; alpha-Thalassemia / blood diagnosis genetics

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 -α3.7 (rightward) deletion.