A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

BACKGROUND: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorders. OBJETIVE: The objective of the current study was to evaluate the effectiveness of educational and preventive measures for hemoglobinopathies using genetic guidance and laboratory screening of families. METHODS: The diagnoses of patients with hemoglobinopathies were confirmed and then the level of knowledge about their disease was evaluated and genetic guidance was provided. Three months later, the level of assimilated information of these patients was evaluated. In addition, laboratory diagnosis of family members was carried out. RESULTS: Diagnosis of sickle cell anemia was confirmed for most patients. Moreover, the majority of the patients who had a low level of knowledge before genetic guidance (68.8%) demonstrated a higher level of assimilated information after the process (81.8%). Almost 70% of the family members had hemoglobin changes and some had hemoglobinopathies (2.6%). They were duly informed about the results of the examinations, which made it possible to investigate further. CONCLUSION: Genetic guidance and family screening were effective preventive and educational measures that improved the quality of life of patients, preventing complications and sequels and allowed the referral of those who may transmit altered genes for clinical diagnosis and to genetic counseling services.

Dosagem de PTH no pós-operatório imediato em pacientes submetidos à tireoidectomia total / Early PTH evaluation after total thyroidectomy for benign disease

Introdução: Doenças benignas da glândula tireoide podemnecessitar de tireoidectomia total tireoidectomias totais. Atireoidectomia total pode chegar a ter uma incidência dehipoparatireoidismo maior que 30%. Avaliando estas altasprevalências de hipoparatireoidismo, resolvemos estudar umametodologia para o diagnóstico precoce desta entidade, atravésda dosagem de PTH no pós-operatório imediato. Método:De setembro a novembro de 2009, 11 pacientes submetidosconsecutivamente a tireoidectomias totais para doençasbenignas da tireoide foram estudados. Todos os pacientes foramsubmetidos à dosagem sérica de paratormônio (PTH), no mesmolaboratório, no período pré-operatório e com até 24 horas de pósoperatório. Resultados: Os resultados da dosagem do PTH pré epós-operatório respectivamente foram: paciente 1 (P1) 38,0 - 3,0pg/ml; paciente 2 (P2) 50,5 - 6,3 pg/ml; paciente 3 (P3) 63,1 - 78,0pg/ml; paciente 4 (P4) 107 - 24,5 pg/ml; paciente 5 (P5) 73,2 -24,0 pg/ml; paciente 6(P6) 37,3 - 28,0 pg/ml; paciente 7 (P7) 24 -11,2 pg/ml; paciente 8 (P8) 39,6 - 3,0 pg/ml, paciente 9 (P9) 42,9 -46,1 pg/ml; paciente 10 (P10) 25,1 - 3,0 pg/ml e paciente 11 (P11)73,6 - 15,7 pg/ml. Discussão: Em nossa casuística encontramos(36,3%) de hipoparatireoidismo transitório laboratorial. Conclusão: A dosagem do PTH se mostrou efetiva no diagnóstico precoce do hipoparatireoidismo pós-operatório podendo auxiliar no tratamento desta entidade antes do desenvolvimento de um quadro clínico exuberante, melhorando a qualidade de vida no pós-operatório.

Introduction: Benign diseases of the thyroid gland may requiretotal thyroidectomy total thyroidectomy. Total thyroidectomy canactually have a higher incidence of hypoparathyroidism than30%. Evaluating these high prevalence of hypoparathyroidism,we studied a method for early diagnosis of this entity by PTHmeasurement in the immediate postoperative period. Method:From September to November 2009, 11 consecutive patientssubmitted to total thyroidectomy for benign thyroid diseases werestudied. All patients underwent measurement of serum parathyroidhormone (PTH) in the same laboratory in the preoperative periodand up to 24 hours postoperatively. Results: The dosage of PTHbefore and after surgery respectively were: patient 1 (P1) from38.0 to 3.0 pg / ml, patient 2 (P2) from 50.5 to 6.3 pg / ml, patient3 (P3) from 63.1 to 78.0 pg / ml, patient 4 (P4) from 107 to 24.5pg / ml, patient 5 (P5) from 73.2 to 24.0 pg / ml, patient 6 (P6) 37,3 - 28.0 pg / ml, patient 7 (P7) from 24 to 11.2 pg / ml, patient 8(P8) from 39.6 to 3.0 pg / ml, patient 9 (P9) from 42.9 to 46, 1 pg/ ml, patient 10 (P10) 25.1 to 3.0 pg / ml, patient 11 (P11) 73.6 to15.7 pg / ml. Discussion: In our case series (36.3%) of transienthypoparathyroidism laboratory. Conclusion: The level of PTHwas effective early diagnosis of postoperative hypoparathyroidismand may help in treating this condition before the development ofa clinically exuberant, improving the quality of life postoperatively.