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Article

Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease.

Hemoglobin - 1 Jul 2020

Moore Jordyn A, Pullon Beverley M, Drake Kylie M, Brennan Stephen O

Abstract excerpt

We report the identification of a large deletion of the α-globin gene cluster, which removed both HBA2 and HBA1 and included the region from HBZ to HBQ1 on chromosome 16 (16p13.3). The α0-thalassemia (α0-thal) deletion was discovered in an Indian family residing in New Zealand. The proband was a 3-month-old female, who presented with a Hb H disease of unknown molecular origin. Routine hematology showed marked...

Topics

Adult
Alleles
Electrophoresis, Capillary
Erythrocyte Indices
Female
Genetic Testing
Genotype
Humans
India
Infant
Male
Multiplex Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Sequence Deletion

alpha-Globins

alpha-Thalassemia

Source

Identifiers

PMID: 32722952
DOI: 10.1080/03630269.2020.1797774

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