beta-Thalassemia intermedia homozygous for normal hemoglobin A2 beta-thalassemia. Study in four families. 1982

M Aksoy, and E Bermek, and G Almiş, and A Kutlar

Four homozygotes for beta-thalassemia with normal hemoglobins A2 and F were studied. The absence or scarcity of transfusion requirement and comparatively low hemoglobin F content were the most important findings. Both parents of 3 patients showed the findings of beta-thalassemia with normal hemoglobins A2 and F. Biosynthetic studies in 2 patients and their both parents showed moderate or mild beta-chain deficiency. The possible reason for this comparatively mild course of a beta-thalassemia syndrome lies in a mild deficit in beta-chain production.

UI MeSH Term Description Entries
D008297 Male Males
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
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
D006441 Hemoglobin A Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
D006443 Hemoglobin A2 An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia. A2, Hemoglobin
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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