Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family

Abstract

While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant.

Keywords:

• β-Thalassemia (β-thal)
• compound heterozygote
• Hb Alperton

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Acknowledgments

We are grateful to Dr. Renu Saxena, Sir Ganga Ram Hospital, New Delhi, Dr. John S. Waye, Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada, and Dr. Marcus Schmugge, University Children’s Hospital, Zürich, Switzerland for their personal communications with the corresponding author providing available information and their own insights about compound heterozygosity for Hb Alperton with other HBB mutations.

Disclosure statement

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