ArticleGenetics and molecular biology
Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.Human genomics · 2025Article
- Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.Frontiers in immunology · 2025Article
- Characterization of New Alpha Zero (αDiagnostics (Basel, Switzerland) · 2023Article
- Breakpoint characterization of a rare alphaInternational journal of laboratory hematology · 2021Article
- Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing αMolecular genetics and genomics : MGG · 2020Article
- Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum.BioMed research international · 2019Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
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Abstract
Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..
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