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Greece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and β-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "Hippokration" Hospital, Thessaloniki, Northern Greece. The description of specific genotypes of the β-globin gene mutations in coinheritance with the triplicated α-globin gene (anti-α3.7 kb) and correlation with the hematologic and clinical data in adulthood may be useful in the evaluation of pediatric patients' prognosis and in genetic counseling of couples at risk.
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http://dx.doi.org/10.1097/MPH.0000000000001730 | DOI Listing |
EJHaem
August 2025
Division of Haematology Department of Medicine, Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand.
Objectives: We aimed to ascertain the prevalence of ααα and ααα triplications in central Thailand and to characterise the phenotypes of individuals harbouring these variants.
Materials And Methods: We performed a retrospective review of adult (≥ 18 years) samples submitted for polymerase chain reaction-based α-globin mutation analysis at Siriraj Hospital, Mahidol University, Bangkok (January 2012-December 2021). Haematological indices were compared between carriers and non-carriers of α-globin triplications, and clinical severity was assessed in those with co-inherited β-globin mutations.
The phenotype of β-thalassemia varies widely. The primary determinant is the type of beta-globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations affecting other related systems. Co-inheritance of alpha thalassemia mutations is known to ameliorate the severity of HbE-β thalassemia.
View Article and Find Full Text PDFHematology
December 2023
Department of Obstetrical, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People's Republic of China.
Background: Thalassemia, a common autosomal hereditary blood disorder worldwide, mainly contains α- and β-thalassemia. The α-globin gene triplicates allele is harmless for carriers, but aggravates the phenotype of β-thalassemia. Therefore, it is particularly crucial to accurately detect the structural variants of α-globin gene clusters.
View Article and Find Full Text PDFFront Genet
October 2023
Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China.
α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large populations. In this study, we investigated the prevalence and distribution of α-globin gene triplication as well as the phenotypic characteristics of α-globin gene triplication coinherited with heterozygous β-thalassemia in Ganzhou city, southern China. During 2021-2022, a total of 73,967 random individuals who received routine health examinations before marriage were genotyped for globin gene mutations by high-throughput sequencing.
View Article and Find Full Text PDFJ Mol Med (Berl)
September 2023
Thalassemia and Sickle Cell Disease Unit, Department of Hematology, First Department of Internal Medicine, General Hospital of Larissa, Tsakalov St. 1, 41 221, Larissa, Greece.
Hemoglobinopathies affect patients in the wider Mediterranean area consisting of 4 distinct subgroups: beta thalassemia major (TM), beta thalassemia intermedia (TI), sickle cell disease (SCD) and hemoglobin H disease (alpha thalassemia). The clinical spectrum varies from mild to severe. Complex interactions between genes and environmental factors form the clinical manifestations.
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