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Article

Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis

by
Beverley M. Pullon
1,* and
Jordyn A. Moore
2
1
Hematology Department, Waikato Hospital, Hamilton, New Zealand
2
Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2020, 10(1), 8733; https://doi.org/10.4081/thal.2020.8733
Submission received: 3 December 2019 / Revised: 3 December 2019 / Accepted: 26 April 2020 / Published: 3 June 2020

Abstract

Hemoglobin (Hb) Ottawa [α15(A13)Gly>Arg], also known as Hb Siam, results from GGT>CGT mutation in codon 15 of either HBA1 or HBA2. Hb Ottawa carriers typically have normal hematology but when the variant is coinherited with either α or β thalassemia, microcytic red cell indices were observed. The percentage of variant detected using routine methodology was variable (14-33%), with a higher percentage found when co-inherited with an abnormal α-globin genotype. The case presented here involved an Indian male with microcytic red cell indices, who was heterozygous for Hb Ottawa (HBA2:c.46G>C) and β+ thalassemia (HBB:c.-138C>T). This case represents the first reported finding of Hb Ottawa in the Indian population, as well as the first time capillary zone electrophoresis (CZE) has been used to identify the variant. The abnormal red cell indices were attributed to co-inheritance of β+ thalassemia mutation (HBB:c.-138C>T), which alters binding of transcriptional factors to the HBB promoter and reduces transcription from the allele. The mild β+ thalassemia mutation has commonly been found in the Indian population.
Keywords: Hb Ottawa; β thalassemia; CZE; PCR Hb Ottawa; β thalassemia; CZE; PCR

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MDPI and ACS Style

Pullon, B.M.; Moore, J.A. Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis. Thalass. Rep. 2020, 10, 8733. https://doi.org/10.4081/thal.2020.8733

AMA Style

Pullon BM, Moore JA. Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis. Thalassemia Reports. 2020; 10(1):8733. https://doi.org/10.4081/thal.2020.8733

Chicago/Turabian Style

Pullon, Beverley M., and Jordyn A. Moore. 2020. "Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis" Thalassemia Reports 10, no. 1: 8733. https://doi.org/10.4081/thal.2020.8733

APA Style

Pullon, B. M., & Moore, J. A. (2020). Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis. Thalassemia Reports, 10(1), 8733. https://doi.org/10.4081/thal.2020.8733

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