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Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant. 2007

Antonio Amato, and Maria Pia Cappabianca, and Donatella Ponzini, and Silvana Rinaldi, and Paola Di Biagio, and Enrica Foglietta, and Paola Grisanti, and Fabrizio Mastropietro
Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. microcitemieroma@blod.info

A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.

UI MeSH Term Description Entries
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D017086 beta-Thalassemia A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. Anemia, Cooley's,Anemia, Erythroblastic,Anemia, Mediterranean,Hemoglobin F Disease,Thalassemia Major,Thalassemia Minor,Erythroblastic Anemia,Mediterranean Anemia,Microcytemia, beta Type,Thalassemia Intermedia,Thalassemia Major (beta-Thalassemia Major),Thalassemia Minor (beta-Thalassemia Minor),Thalassemia, beta Type,beta Thalassemia,Anemia, Cooley,Anemia, Cooleys,Anemias, Erythroblastic,Anemias, Mediterranean,Cooley's Anemia,Disease, Hemoglobin F,Intermedia, Thalassemia,Intermedias, Thalassemia,Major, Thalassemia (beta-Thalassemia Major),Majors, Thalassemia (beta-Thalassemia Major),Mediterranean Anemias,Microcytemias, beta Type,Minor, Thalassemia (beta-Thalassemia Minor),Minors, Thalassemia (beta-Thalassemia Minor),Thalassemia Intermedias,Thalassemia Major (beta Thalassemia Major),Thalassemia Majors (beta-Thalassemia Major),Thalassemia Minor (beta Thalassemia Minor),Thalassemia Minors (beta-Thalassemia Minor),Thalassemia, beta,Thalassemias, beta,Thalassemias, beta Type,Type Microcytemia, beta,Type Microcytemias, beta,Type Thalassemia, beta,Type Thalassemias, beta,beta Thalassemias,beta Type Microcytemia,beta Type Microcytemias,beta Type Thalassemia,beta Type Thalassemias
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

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