[The Hbf in Fanconi's anemia (author's transl)]. 1981

R Miniero, and O David, and G Saglio, and C Paschero, and P Nicola

The Authors studied the HbF in an 8-year-old-girl with Fanconi's anemia. At the admission the patient was anemic (Hb 7,1 g%), thrombocytopenic and leucopenic, HbF was 23% (1,8 g%) with heterocellular distribution. Globin chain synthesis in the peripheral blood displayed an alpha/non alpha ratio of. 1,05. gamma-Chain analysis was performed: at position 136 the gamma G/gamma A ratio was 3:1 at positions 75 threonine was present in the 30% of the chains. The girl was transfused and oximetholone therapy was started. After 2 months of treatment, an increase of the Hb levels was observed. This improvement lasted about 5 months. The amount of HbF remained constant throughout the management. It may be suggested that androgens work only on HbA synthesis while the HbF-producing-cells are irresponsive to the hormonal stimulation.

UI MeSH Term Description Entries
D007137 Immunoglobulin alpha-Chains The class of heavy chains found in IMMUNOGLOBULIN A. They have a molecular weight of approximately 58 kDa and contain about 470 amino acid residues arranged in four domains and an oligosaccharide component bound covalently to their Fc fragment constant region. Ig alpha Chains,Immunoglobulins, alpha-Chain,Immunoglobulin alpha-Chain,alpha-Chain Immunoglobulins,alpha-Immunoglobulin Heavy Chain,alpha-Immunoglobulin Heavy Chains,Chains, Ig alpha,Heavy Chain, alpha-Immunoglobulin,Heavy Chains, alpha-Immunoglobulin,Immunoglobulin alpha Chain,Immunoglobulin alpha Chains,Immunoglobulins, alpha Chain,alpha Chain Immunoglobulins,alpha Chains, Ig,alpha Immunoglobulin Heavy Chain,alpha Immunoglobulin Heavy Chains,alpha-Chain, Immunoglobulin,alpha-Chains, Immunoglobulin
D007142 Immunoglobulin gamma-Chains Heavy chains of IMMUNOGLOBULIN G having a molecular weight of approximately 51 kDa. They contain about 450 amino acid residues arranged in four domains and an oligosaccharide component covalently bound to the Fc fragment constant region. The gamma heavy chain subclasses (for example, gamma 1, gamma 2a, and gamma 2b) of the IMMUNOGLOBULIN G isotype subclasses (IgG1, IgG2A, and IgG2B) resemble each other more closely than the heavy chains of the other IMMUNOGLOBULIN ISOTYPES. Immunoglobulins, gamma-Chain,Immunoglobulin gamma-Chain,gamma Immunoglobulin Heavy Chain,gamma Immunoglobulin Heavy Chains,gamma-1-Immunoglobulin Heavy Chain,gamma-2a-Immunoglobulin Heavy Chain,gamma-2b-Immunoglobulin Heavy Chain,gamma-Chain Immunoglobulins,Heavy Chain, gamma-1-Immunoglobulin,Heavy Chain, gamma-2a-Immunoglobulin,Heavy Chain, gamma-2b-Immunoglobulin,Immunoglobulin gamma Chain,Immunoglobulin gamma Chains,Immunoglobulins, gamma Chain,gamma 1 Immunoglobulin Heavy Chain,gamma 2a Immunoglobulin Heavy Chain,gamma 2b Immunoglobulin Heavy Chain,gamma Chain Immunoglobulins,gamma-Chain, Immunoglobulin,gamma-Chains, Immunoglobulin
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005199 Fanconi Anemia Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id Anemia, Fanconi,Fanconi Hypoplastic Anemia,Fanconi Pancytopenia,Fanconi Panmyelopathy,Fanconi's Anemia,Anemia, Fanconi's,Anemias, Fanconi,Fanconi Anemias
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000728 Androgens Compounds that interact with ANDROGEN RECEPTORS in target tissues to bring about the effects similar to those of TESTOSTERONE. Depending on the target tissues, androgenic effects can be on SEX DIFFERENTIATION; male reproductive organs, SPERMATOGENESIS; secondary male SEX CHARACTERISTICS; LIBIDO; development of muscle mass, strength, and power. Androgen,Androgen Receptor Agonist,Androgen Effect,Androgen Effects,Androgen Receptor Agonists,Androgenic Agents,Androgenic Compounds,Agents, Androgenic,Agonist, Androgen Receptor,Agonists, Androgen Receptor,Compounds, Androgenic,Effect, Androgen,Effects, Androgen,Receptor Agonist, Androgen,Receptor Agonists, Androgen
D000741 Anemia, Aplastic A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Anemia, Hypoplastic,Aplastic Anaemia,Aplastic Anemia,Anaemia, Aplastic,Aplastic Anaemias,Aplastic Anemias,Hypoplastic Anemia,Hypoplastic Anemias

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