A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

doi:10.1080/03630269.2023.2184382

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Article

A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

Hemoglobin - 1 Nov 2023

Long Ju, Gong Feifei, Sun Lei, Yu Chunhui, Liu Enqi

Abstract excerpt

To assess the effectiveness of three-level prevention and control of thalassemia, we routinely collect samples from transfusion-dependent individuals and perform genetic analysis. Here, we report on a 10-year-old boy requiring blood transfusions with routine thalassemia gene test results of αα/αα, and βCD41/42/βN, but he had thalassemia-like changes in his appearance and a high need for frequent blood...

Topics

Male
Humans
Genotype
Thalassemia
beta-Thalassemia
Phenotype
Multigene Family
Blood Transfusion
alpha-Globins
alpha-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 37194740
DOI: 10.1080/03630269.2023.2184382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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