RESUMEN
At the onset of erythroleukemia, the patient, a 74-year-old Swiss male, was also found to have microcytic-hypochromic anemia (Hb: 82 g/l, MCV: 69 fl, MCH: 21 pg). Further laboratory examinations revealed reduced hemoglobin stability, a hemoglobin H fraction of 3.0% on cellulose acetate-electrophoresis, and an abundance of hemoglobin H inclusion bodies in red cells. These findings, as well as the Swiss origin of the patient and his age at the onset of the disease, were consistent with acquired hemoglobin H disease. In addition to genetic hemoglobin H disease, acquired hemoglobin H disease was reported to be associated with myelodysplastic and myeloproliferative syndrome, or erythroleukemia and acute myelogenous leukemia. The literature contains fewer than 50 cases. It is suggested that the molecular basis of this rare disease involves a gene in trans to the alpha-globin genes reducing the expression of all four alpha-globin genes to approximately 10% of normal activity.
Asunto(s)
Anemia Hipocrómica/complicaciones , Hemoglobina H/análisis , Leucemia Eritroblástica Aguda/sangre , Anciano , Anemia Hipocrómica/sangre , Humanos , Cuerpos de Inclusión , Leucemia Eritroblástica Aguda/complicaciones , MasculinoRESUMEN
In a female newborn presenting with pronounced cyanosis in the absence of cardiopulmonary disease, the cyanosis was due to methemoglobinemia of 33% at birth and 17% at 24 hours (upper limit 0.5%) which was found to be secondary to deficiency of red blood cell cytochrome b5 reductase (EC 1.6.2.2.). Only residual activity of this enzyme was measurable, thus indicating homozygosity. Both parents were found to be heterozygous for this inherited disease. Of the six sisters and brothers of the newborn's father, five were investigated and all found to be heterozygous for the defective allele. Measurement of cytochrome b5 reductase showed both soluble and membrane bound fractions to be affected equally in the red cells of the baby's heterozygous parents.
Asunto(s)
Eritrocitos/enzimología , Metahemoglobinemia/sangre , Adulto , Anciano , Niño , Reductasas del Citocromo , Citocromo-B(5) Reductasa , Femenino , Heterocigoto , Humanos , Recién Nacido , Masculino , Metahemoglobinemia/genética , Persona de Mediana EdadRESUMEN
The construction and development of a questionnaire which measures the attitudes of general practitioners towards their role in the medical care system is described. Factor analytic procedures identified seven reliable factor-based subscales. The subscales measured attitudes towards: a psychological orientation to patient care, government involvement in the health care system, preventive medicine, patient participation in the consultation, communication with patients, responsibility for decision making and the appropriateness of consultations. The responses of 387 randomly selected Australian general practitioners to this measure are described. Overall, there was strong support for the importance of fostering patient participation, facilitating open communication and understanding, having a psychological orientation, and implementing preventive activities in general practice. However, the sample was strongly opposed to a government regulated health care system. Age and sex of the general practitioner were shown to influence orientations on some dimensions.
Asunto(s)
Actitud Frente a la Salud , Médicos de Familia/psicología , Pautas de la Práctica en Medicina , Australia , Humanos , Participación del Paciente , Relaciones Profesional-Paciente , Encuestas y CuestionariosRESUMEN
In 26,224 blood samples sent to the laboratory in the last 10 years, abnormal haemoglobins were present in 565 samples and 5579 cases of thalassaemia have been diagnosed. With routine testing a red cell enzyme deficiency was found in 722 samples. Laboratory tests for delta beta-thalassaemia, alpha-thalassaemia and glucose-6-phosphate dehydrogenase deficiency had been requested only for a minority of the detected cases. It is obvious that many physicians are not familiar with these disorders.
Asunto(s)
Eritrocitos/enzimología , Hemoglobinopatías/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/sangre , Hemoglobinopatías/sangre , Hemoglobinopatías/epidemiología , Hemoglobinas Anormales/análisis , Humanos , Suiza , Talasemia/diagnósticoRESUMEN
The broad range of medical problems seen in general practice means that the assessment of health outcomes shares much with the assessment of health status in the general community. The last two decades have seen considerable progress in health status measurement for this purpose. This paper reports the use of three such measures in a general practice setting. The 'Rand health insurance study battery', the 'sickness impact profile' and the 'general health questionnaire' were tested in two general practices in Sydney, Australia, to determine patient compliance, to assess the range of scores and discriminative ability of the instruments, and to compare the different instruments. There was a high degree of acceptance of the questionnaires, showing that patients visiting their general practitioners are prepared to complete such questionnaires. The range of scores obtained was less skewed for the Rand measures than for the sickness impact profile or the general health questionnaire, suggesting that the Rand measures should be the preferred general health status measure.
Asunto(s)
Medicina Familiar y Comunitaria , Indicadores de Salud , Encuestas Epidemiológicas , Evaluación de Procesos y Resultados en Atención de Salud/métodos , Australia , Humanos , Encuestas y CuestionariosRESUMEN
The use of automated analysers in population screening for beta-thalassaemia has been a matter of controversy. The new fully automated haematology analyser Sysmex E-5000 (Toa Medical Electronics Co. Ltd) facilitates the discrimination of heterozygous thalassaemia from iron deficiency anaemia. In addition to haemoglobin, mean corpuscular haemoglobin and mean corpuscular volume, the red cell size-distribution width is measured. In patients with hypochromic microcytic red cells, the Sysmex data have been evaluated and compared with the indices described by England and Fraser [Lancet i, pp. 449-452, 1973], Mentzer [Lancet i, p. 882, 1973] and by Shine and Lal [Lancet i, pp. 692-694, 1977]. For the detection of beta-thalassaemia trait, the size-distribution width is superior to the previously described indices. The sensitivity is 79%, the specificity 95% and the predictive value for a positive test 94%.
Asunto(s)
Hematología/instrumentación , Deficiencias de Hierro , Talasemia/diagnóstico , Diagnóstico Diferencial , Eritrocitos/patología , Reacciones Falso Negativas , Reacciones Falso Positivas , Pruebas Hematológicas , Humanos , Tamizaje Masivo/instrumentación , Tamizaje Masivo/métodosRESUMEN
The Family Medicine Programme (FMP) of the Royal Australian College of General Practitioners is a national programme of vocational training for general/family practice. In 1981 the decision was made to adopt 'learning by contract' as an educational method leading to the certification of training. This paper describes the educational philosophy of the FMP and its importance in this decision. The experience of the authors in the implementation of learning by contract is also described.
Asunto(s)
Medicina Familiar y Comunitaria/educación , Capacitación en Servicio , Instrucciones Programadas como Asunto , Australia , Certificación , Competencia Clínica , HumanosRESUMEN
Two commercially available laboratory kits for the determination of HbF and HbA2 with radial immunodiffusion and chromatography in microcolumns have been compared with standard methods. The two kits can be recommended for diagnostic routine laboratories. They are easy to perform and the results were found to be in excellent agreement with those of the alkali denaturation method and electrophoresis with elution of HbA2. The two kits are time-saving, although the reagents and other materials are more expensive.
Asunto(s)
Hemoglobina Fetal/análisis , Hemoglobina A2/análisis , Hemoglobina A/análisis , Hemoglobinometría/métodos , Juego de Reactivos para Diagnóstico/normas , Cromatografía , Electroforesis , Humanos , InmunodifusiónRESUMEN
For characterizing glucose-6-phosphate dehydrogenase variants 10 functional parameters are generally used. As additional tests the determination of Km and Ki at different pH values, the limiting Km for both substrates, isoelectric focusing and electrophoresis of enzyme subunits have been recommended. Most of the variants with favourable kinetic properties do not produce chronic haemolysis. As an exception G6PD Aarau is quoted. Sporadic cases and deficiency conditions with manifest chronic nonspherocytic haemolytic anaemia should be selected for complete enzyme characterization. Individual and public health aspects are of primary importance for screening programs. Among 28,367 blood samples 424 cases with G6PD deficiency have been found in Switzerland.
Asunto(s)
Variación Genética , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa/genética , Electroforesis , Femenino , Glucosafosfato Deshidrogenasa/metabolismo , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Hemólisis , Humanos , Focalización Isoeléctrica , Cinética , Masculino , SuizaRESUMEN
A total of 2672 cases with thalassemia syndromes observed in the period from 1 January 1968 to 30 April 1974 are classified according to type of thalassemia and the patient's country of origin. During the past 15 years some 10 patients annually with classical heterozygous beta-thalassaemia have been found to be of purely Swiss origin. Due to increased immigration from Mediterranean countries the Swiss patients represent only 2.6 percent of all cases at the present time, a marked decrease from the earlier 30 percent. Since 1968 2260 cases of thalassemia syndrome have been found in Italian patients. Smaller groups of patients originate from Greece, Spain and Turkey. Homozygous beta-thalassemia was observed in 56 cases. Ranking third among thalassemia syndromes is the Hb Lepore trait found in 16 cases. The increase in thalassemia syndromes due to population migration over the past 10 years has resulted in the finding of rare types in Switzerland: 8 patients with HbS-beta-thalassemia, 2 with HbC-beta-thalassemia, 3 cases of HbH-alpha-thalassemia and 2 cases of Hb Bart's-alpha-thalassemia are reported. The difficulty of diagnosing deltabeta-thalassemia and alpha-thalassemia is emphasized.