RESUMEN
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.
Asunto(s)
Hemoglobina Fetal , Globinas/biosíntesis , Hemoglobinopatías/genética , Niño , Preescolar , Cromatografía DEAE-Celulosa , Femenino , Ghana , Homocigoto , Humanos , India , Masculino , Persona de Mediana Edad , Linaje , Precursores de Proteínas/biosíntesis , Estados UnidosRESUMEN
Hematologic and globin chain synthesis studies have been made in 21 children, aged 2 to 6 years, many of their parents, and several normal adults and alpha-thalassemia heterozygotes. At birth, 11 children had about 5% hemoglobin (Hb) Bart's, 5 had about 2% Hb Bart's, and 5 had no trace of Hb Bart's. A significant decrease in mean corpuscular volume. (MCV) and mean corpuscular hemoglobin (MCH) values and an increase in the beta/alpha ratio was observed in the first group; microcytosis and hypochromia were absent in the children of the second group although the beta/alpha ratio was significantly increased. The alpha chain deficiency is familial. Increased alpha/alpha ratios were present in many parents although only two parents of children with 5% Hb Bart's at birth had hematologic findings suggestive of the presence of the same type of defect as observed in the children with the larger amount of Hb Bart's at birth.
Asunto(s)
Hemoglobinopatías/genética , Adulto , Población Negra , Niño , Preescolar , Eritrocitos/crecimiento & desarrollo , Femenino , Genotipo , Georgia , Hematócrito , Hemoglobinometría , Hemoglobinopatías/sangre , Hemoglobinas Anormales , Humanos , Recién Nacido , Estudios Longitudinales , Masculino , Linaje , Talasemia/genéticaRESUMEN
Haemoglobin A(2) in 11 normal and 42 B thalassaemia minor subjects was estimated by simple visual assessment of the electrophoretogram. The results obtained give rise to doubts as to the reliability of this technique when used to estimate haemoglobin A(2) under normal laboratory conditions.
Asunto(s)
Hemoglobinas/análisis , Electroforesis de las Proteínas Sanguíneas , Cromatografía , Hemoglobinometría , Humanos , Métodos , Talasemia/sangre , Visión OcularAsunto(s)
Anemia de Células Falciformes/epidemiología , Enfermedad de la Hemoglobina C/epidemiología , Talasemia/epidemiología , Anemia de Células Falciformes/genética , Electroforesis de las Proteínas Sanguíneas , Niño , Preescolar , Electroforesis en Gel de Poliacrilamida , Hemoglobina C/análisis , Enfermedad de la Hemoglobina C/genética , Hemoglobinopatías/diagnóstico , Hemoglobinas Anormales/análisis , Humanos , Masculino , Péptidos/análisis , Sudáfrica , Talasemia/genética , Población BlancaRESUMEN
An automated technique is described which is capable of detecting sickle-cell haemoglobin and differentiating the sickle-cell trait from sickle-cell anaemia. The method is based upon the Itano solubility test and utilizes Technicon equipment.
Asunto(s)
Anemia de Células Falciformes/diagnóstico , Autoanálisis , Hemoglobinas Anormales/análisis , Anemia de Células Falciformes/sangre , Tampones (Química) , Diagnóstico Diferencial , Enfermedad de la Hemoglobina C/sangre , Hemoglobinometría/instrumentación , HumanosAsunto(s)
Anemia de Células Falciformes/diagnóstico , Enfermedades del Recién Nacido/diagnóstico , Análisis Químico de la Sangre , Electroforesis de las Proteínas Sanguíneas , Electroforesis en Papel , Femenino , Hemoglobina Fetal/análisis , Enfermedad de la Hemoglobina C/diagnóstico , Hemoglobinas/análisis , Humanos , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Métodos , Embarazo , Talasemia/diagnóstico , Cordón UmbilicalAsunto(s)
Mioglobina/análisis , Acrilatos , Anciano , Secuencia de Aminoácidos , Aneurisma de la Aorta , Arginina , Electroforesis , Femenino , Código Genético , Glutamina , Humanos , Proteínas Musculares/análisis , Péptidos/análisis , TripsinaRESUMEN
A simple and rapid screening test which differentiates sickle-cell trait and sickle-cell anaemia is described. The test utilizes 0.1 ml of whole blood and is based on the low solubility of reduced sickle haemoglobin. Results intermediate between the sickle-cell trait and sickle-cell anaemia are obtained in unusual cases of sickle-cell anaemia with high foetal haemoglobin. The need to supplement the results with haematological and electrophoretic techniques is discusses.