First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family.

doi:10.1080/03630269.2017.1366918

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Article

First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family.

Hemoglobin - 1 May 2017

Hui Annie S Y, Au Patrick K C, Ting Yuen-Ha, Kan Anita S Y, Cheng Yvonne K Y, Leung Alex W K, Chan Kelvin Y K, Li Chi-Kong, Tang Mary H Y, Leung Tak-Yeung

Abstract excerpt

A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed...

Topics

Adult
Alleles
Asian People
China
Comparative Genomic Hybridization
DNA Mutational Analysis
Female
Genotype
Humans
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Prenatal Diagnosis

Sequence Deletion

alpha-Thalassemia

beta-Globins

beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 28950778
DOI: 10.1080/03630269.2017.1366918

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