RESUMEN
We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.
Asunto(s)
Talasemia beta/genética , Secuencia de Aminoácidos , Secuencia de Bases , Codón , ADN/análisis , Mutación del Sistema de Lectura/genética , Globinas/genética , Humanos , Hungría/epidemiología , Biología Molecular , Datos de Secuencia Molecular , Sondas de Oligonucleótidos , Talasemia beta/epidemiologíaAsunto(s)
Historia del Siglo XX , Hungría , Micología/historia , New York , Medicina Tropical/historiaAsunto(s)
Malaria/epidemiología , Emigración e Inmigración , Humanos , Hungría , Viaje , Clima TropicalAsunto(s)
Malaria/inmunología , Plasmodium/inmunología , Anticuerpos/análisis , Preescolar , Femenino , Ghana , Humanos , Lactante , MasculinoAsunto(s)
Hemoglobinas Anormales/análisis , Talasemia/sangre , Adulto , Niño , Femenino , Ghana , Humanos , Masculino , Talasemia/genéticaRESUMEN
A Hungarian family with four heterozygotes for Hb Lepore Washington is described. One, a 43-year-old male, had high levels of serum iron, saturated iron-binding capacity, and ferritin, and normal levels of folic acid and vitamin B12. Liver biopsy showed slight cirrhosis and marked iron deposition in parenchymal cells and in cells of the reticuloendothelial system. Heavy iron deposition was also found in the bone marrow. The patient is not an alcoholic and has no disease that requires blood transfusion. The hemochromatosis thus seems to be of idiopathic nature.
Asunto(s)
Hemocromatosis/metabolismo , Hemoglobinas Anormales/genética , Adolescente , Adulto , Aminoácidos/análisis , Niño , Femenino , Ferritinas/sangre , Hemocromatosis/sangre , Heterocigoto , Humanos , Hungría , Hierro/metabolismo , Hígado/metabolismo , Hígado/patología , Masculino , Unión ProteicaRESUMEN
Two sons of a previously reported Ghanaian homozygote for the hereditary persistence of fetal hemoglobin (HPFH) (Ringelhann et al., 1970) also are HPFH homozygotes. In addition, another unrelated adult Ghanaian homozygote has been detected. All of these Ghanaian homozygotes as well as three American Black HPFH homozygotes have the G gamma A gamma type of HPFH with a G gamma to A gamma ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the G gamma type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a gamma/alpha ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.