Biomaterial Database

Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece. 2020

Stamatia Theodoridou, and Angeliki Balassopoulou, and Effrossyni Boutou, and Evangelia-Eleni Delaki, and Eleni Yfanti, and Timoleon-Achilleas Vyzantiadis, and Evangelia Vetsiou, and Ersi Voskaridou, and Efthymia Vlachaki

Adult Thalassaemia Unit, Hippokration Hospital.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D012017	Referral and Consultation	The practice of sending a patient to another program or practitioner for services or advice which the referring source is not prepared to provide.	Consultation,Gatekeepers, Health Service,Hospital Referral,Second Opinion,Consultation and Referral,Health Service Gatekeepers,Hospital Referrals,Referral,Referral, Hospital,Referrals, Hospital,Consultations,Gatekeeper, Health Service,Health Service Gatekeeper,Opinion, Second,Opinions, Second,Referrals,Second Opinions
D005260	Female		Females
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006115	Greece	A country in southern Europe, bordering the Aegean Sea, Ionian Sea, and the Mediterranean Sea, between Albania and Turkey. The capital is Athens.	Crete,Macedonia (Greece)