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2.
PLoS One ; 15(1): e0228258, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31999737

RESUMO

Nationally representative data on the micronutrient status of Ghanaian women and children are very scarce. We aimed to document the current national prevalence of micronutrient deficiencies, anemia, malaria, inflammation, α-thalassemia, sickle cell disease and trait, and under- and over-nutrition in Ghana. In 2017, a two-stage cross-sectional design was applied to enroll pre-school children (6-59 months) and non-pregnant women (15-49 years) from three strata in Ghana: Northern, Middle and Southern Belt. Household and individual questionnaire data were collected along with blood samples. In total, 2123 households completed the household interviews, 1165 children and 973 women provided blood samples. Nationally, 35.6% (95%CI: 31.7,39.6) of children had anemia, 21.5% (18.4,25.0) had iron deficiency, 12.2% (10.1,14.7) had iron deficiency anemia, and 20.8% (18.1,23.9) had vitamin A deficiency; 20.3%(15.2,26.6) tested positive for malaria, 13.9% (11.1,17.3) for sickle trait plus disease, and 30.7% (27.5,34.2) for α-thalassemia. Anemia and micronutrient deficiencies were more prevalent in rural areas, poor households and in the Northern Belt. Stunting and wasting affected 21.4% (18.0,25.2) and 7.0% (5.1,9.5) of children, respectively. Stunting was more common in rural areas and in poor households. Among non-pregnant women, 21.7% (18.7,25.1) were anemic, 13.7% (11.2,16.6) iron deficient, 8.9% (6.7,11.7) had iron deficiency anemia, and 1.5% (0.8,2.9) were vitamin A deficient, 53.8% (47.6,60.0) were folate deficient, and 6.9% (4.8,9.8) were vitamin B12 deficient. Malaria parasitemia in women [8.4% (5.7,12.2)] was lower than in children, but the prevalence of sickle cell disease or trait and α-thalassemia were similar. Overweight [24.7% (21.0,28.8)] and obesity [14.3% (11.5,17.7)] were more common in wealthier, older, and urban women. Our findings demonstrate that anemia and several micronutrient deficiencies are highly present in Ghana calling for the strengthening of Ghana's food fortification program while overweight and obesity in women are constantly increasing and need to be addressed urgently through governmental policies and programs.


Assuntos
Anemia/epidemiologia , Transtornos da Nutrição Infantil/epidemiologia , Hemoglobinopatias/epidemiologia , Malária/epidemiologia , Micronutrientes/deficiência , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Gana/epidemiologia , Inquéritos Epidemiológicos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Prevalência , Adulto Jovem
3.
Indian J Med Res ; 150(2): 161-166, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31670271

RESUMO

Background & objectives: Swiss-type hereditary persistence of foetal haemoglobin (HPFH) has been shown to be responsible for the wide range of F cell levels in healthy Thai adults. However, a survey for F cells in healthy Thai adults has not been performed. This study was conducted to determine the F cell distribution in adult Thai blood donors and to assess the possible involvement of ß-thalassaemia and haemoglobin E (HbE) carriers in increased HbF levels. Methods: Thai blood donors (n=375, 205 males and 170 females) were included in the study. Blood samples were collected for measuring haemoglobin (Hb) concentration and haematocrit (Hct) and F cell levels. Hb and Hct levels were determined by automated blood counter, while F cells were quantified by flow cytometric analysis of F cells stained by fluorescein isothiocyanate-conjugated anti γ-globin monoclonal antibody. Finally, F cell levels were compared between blood samples having mean corpuscular volume (MCV ) <80 fl and ≥80 fl as well as between ß-haemoglobinopathies (HbE and ß-thalassaemia carriers) and normal adults. Results: F cell levels varied markedly spanning 0.80-39.2 per cent with a positively skewed distribution. Thirty two per cent of these individuals had F cell levels more than the 4.5 per cent cut-off point. F cell levels in females were significantly higher than those in males (P<0.05). F cell levels in individuals having MCV <80 fl were significantly higher than those having MCV ≥80 fl (P<0.05). ß-haemoglobinopathy (HbE and ß-thalassaemia carriers) had significantly higher F cell levels than normal individuals (P<0.05). Interpretation & conclusions: The present results showed that besides Swiss-type HPFH, the ß-haemoglobinopathy was expected to be involved in increased F cell levels in adult Thais. Thus, influence of ß-haemoglobinopathy must be considered in interpreting F cell levels in area endemic of this globin disorder.


Assuntos
Hemoglobina Fetal/genética , Hemoglobina E/genética , Hemoglobinopatias/genética , Talassemia beta/genética , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Anemia Falciforme/patologia , Doadores de Sangue , Pré-Escolar , Índices de Eritrócitos/genética , Feminino , Hemoglobinopatias/sangue , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/patologia , Heterozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Tailândia , Talassemia beta/sangue , Talassemia beta/epidemiologia , Talassemia beta/patologia
4.
Biomed Res Int ; 2019: 6857417, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31662988

RESUMO

Consanguinity is a social behavior characterized by the arrangement of marriages between relatives. It coincides generally with the geographic distribution of recessive genetic diseases as it increases the likelihood of homozygosis and, consequently, the incidence of their pathologies in the population. In this pilot study, we assess the effect of inbreeding on the burden of hemoglobinopathies in Northern Morocco. From January 2016 to December 2018, 197 children born in the studied region to three ancestral generations and diagnosed with hemoglobinopathies were subject to investigation. The rate of consanguinity in the parents' generation of children with hemoglobinopathies was 50.25%, with first cousin marriages accounting for 68.69% of consanguineous unions (FI = 0.02). The corresponding rates in the general population, based on a sample of N = 900, were 29.67% and 82.02%, respectively. The marriages between first cousins are the most common among the other types of consanguineous unions. Our study propounds that consanguinity substantially contributes to the hemoglobinopathy burden in the studied region and has changed little over time. Refraining from consanguineous marriages and detecting couples at risk could contribute to the reduction of the incidence of genetic diseases in our country.


Assuntos
Hemoglobinopatias/epidemiologia , Criança , Consanguinidade , Feminino , Humanos , Incidência , Masculino , Casamento , Marrocos/epidemiologia , Projetos Piloto
5.
Pharmacogenomics ; 20(11): 791-801, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31393228

RESUMO

Aim: ß-Type hemoglobinopathies are characterized by vast phenotypic diversity as far as disease severity is concerned, while differences have also been observed in hydroxyurea (HU) treatment efficacy. These differences are partly attributed to the residual expression of fetal hemoglobin (HbF) in adulthood. The Krüppel-like family of transcription factors (KLFs) are a set of zinc finger DNA-binding proteins which play a major role in HbF regulation. Here, we explored the possible association of variants in KLF gene family members with response to HU treatment efficacy and disease severity in ß-hemoglobinopathies patients. Materials & methods: Six tag single nucleotide polymorphisms, located in four KLF genes, namely KLF3, KLF4, KLF9 and KLF10, were analyzed in 110 ß-thalassemia major patients (TDT), 18 nontransfusion dependent ß-thalassemia patients (NTDT), 82 sickle cell disease/ß-thalassemia compound heterozygous patients and 85 healthy individuals as controls. Results: Our findings show that a KLF4 genomic variant (rs2236599) is associated with HU treatment efficacy in sickle cell disease/ß-thalassemia compound heterozygous patients and two KLF10 genomic variants (rs980112, rs3191333) are associated with persistent HbF levels in NTDT patients. Conclusion: Our findings provide evidence that genomic variants located in KLF10 gene may be considered as potential prognostic biomarkers of ß-thalassemia clinical severity and an additional variant in KLF4 gene as a pharmacogenomic biomarker, predicting response to HU treatment.


Assuntos
Anemia Falciforme/tratamento farmacológico , Fatores de Transcrição de Resposta de Crescimento Precoce/genética , Hemoglobinopatias/tratamento farmacológico , Fatores de Transcrição Kruppel-Like/genética , Talassemia beta/tratamento farmacológico , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Biomarcadores Farmacológicos/metabolismo , Feminino , Hemoglobina Fetal/genética , Estudos de Associação Genética , Hemoglobinopatias/sangue , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/genética , Humanos , Hidroxiureia/administração & dosagem , Hidroxiureia/efeitos adversos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Índice de Gravidade de Doença , Resultado do Tratamento , Talassemia beta/sangue , Talassemia beta/epidemiologia , Talassemia beta/genética
6.
Int J Lab Hematol ; 41(5): 650-656, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31271507

RESUMO

INTRODUCTION: Thalassemias and hemoglobinopathies are the most prevalent inherited anemias detected in South East Asians. These disorders represent not only a clinical health problem but also a socioeconomic problem for this region. Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered. The knowledge about the prevalence and molecular genotyping of thalassemias and hemoglobinopathies among the Lao Loum group, which includes the majority of Lao people, is now limited, making the prevention and control of thalassemias difficult. METHODS: This study aimed to determine the prevalence of thalassemia among Lao Loum subjects of reproductive age. Multiplex gap PCR and direct sequencing were used to investigate the mutations of α-globin and ß-globin genes. RESULTS: Thalassemias and hemoglobinopathies were detected in 154 of 354 (43.50%) patients, and 22 different genotypes were identified in this cohort. Remarkably, high frequencies of hemoglobin E, α0 -thalassemia (--SEA ), and α+ -thalassemia (-α3.7 ) were noted. A variety of hematologic features was observed, including co-inheritance of heterozygous HbE and heterozygous α-thalassemia, which was associated with significantly lower levels of MCV and MCH values than those observed in typical HbE heterozygotes. Female participants who were heterozygous for ß0 or co-inheritance of heterozygous ßE with heterozygous α-thalassemia exhibited mild anemia. CONCLUSION: Our data show that thalassemias and hemoglobinopathies have become health problems imposing a serious burden in the Lao PDR. Prevention programs aimed at decreasing the incidence of severe thalassemia diseases should be designed and initiated.


Assuntos
Hemoglobina E/genética , Hemoglobinopatias/genética , Mutação , alfa-Globinas/genética , Talassemia alfa/genética , Talassemia beta/genética , Adolescente , Feminino , Frequência do Gene , Testes Genéticos/métodos , Genótipo , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Humanos , Laos/epidemiologia , Masculino , Prevalência , Adulto Jovem , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
7.
Hemoglobin ; 43(3): 166-173, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31272240

RESUMO

Iran, as a country located in the Thalassemia Belt, has made great progress in thalassemia prevention and treatment. The thalassemia prevention program was implemented in 1995 and the country-wide thalassemia treatment network, consisting of 64 medical universities and faculties, is active. The acknowledgment of the status of thalassemia treatment and prevention in Iran can be of significance to researchers of the countries affected with thalassemia. In the present research, the database of the Treatment Deputy Office of the Ministry of Health, Treatment and Medical Education and that of the Hemovigilance Network of the Iranian Blood Transfusion Organization, were used. The data were analyzed using the Statistical Package of the Social Sciences, version 23. The findings show 90.13% reduction in the expected cases of new ß-thalassemia (ß-thal) births in 2015. Moreover, out of 18,983 hemoglobinopathy patients, 17,342 are ß-thal major (ß-TM) and ß-thal intermedia (ß-TI) patients covered by 198 medical centers. Out of the total number of blood donations in Iran, 19.17% are allocated to thalassemia treatment. Iran has reached an acceptable level of success in thalassemia prevention and the preparation of safe and adequate blood. Iran's achievements can be adapted to other developing countries, particularly in the Middle East.


Assuntos
Talassemia beta/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Gerenciamento Clínico , Feminino , Geografia Médica , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/prevenção & controle , Hemoglobinopatias/terapia , Humanos , Lactente , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Vigilância em Saúde Pública , Sistema de Registros , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/prevenção & controle , Talassemia beta/terapia
8.
Br J Cancer ; 120(8): 861-863, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30890774

RESUMO

African-American (AA) cancer patients have long-experienced worse outcomes compared to non-Hispanic whites (NHW). No studies to date have evaluated the prognostic impact of sickle cell trait (SCT) and other inherited haemoglobinopathies, of which several are disproportionately high in the AA population. In a cohort analysis of treated patients diagnosed with breast or prostate cancer in the linked SEER-Medicare database, the relative risk (RR) for ≥1 serious adverse events (AEs), defined as hospitalisations or emergency department visits, was estimated for 371 AA patients with a haemoglobinopathy (AA+) compared to patients without haemoglobinopathies (17,303 AA-; 144,863 NHW-). AA+ patients had significantly increased risk for ≥1 AEs compared to AA- (RR = 1.19; 95% CI 1.11-1.27) and NHW- (RR = 1.23; 95% CI 1.15-1.31) patients. The magnitude of effect was similar by cancer type, and in analyses of AA+ with SCT only. Our findings suggest a novel hypothesis for disparities in cancer outcomes.


Assuntos
Afro-Americanos , Hemoglobinopatias/epidemiologia , Neoplasias/epidemiologia , Traço Falciforme/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia , Grupo com Ancestrais do Continente Europeu , Feminino , Hemoglobinopatias/sangue , Hemoglobinopatias/complicações , Hemoglobinopatias/patologia , Humanos , Masculino , Medicare , Neoplasias/sangue , Neoplasias/complicações , Neoplasias/patologia , Pacientes , Fatores de Risco , Programa de SEER , Traço Falciforme/sangue , Traço Falciforme/complicações , Traço Falciforme/patologia , Estados Unidos/epidemiologia
9.
Med. clín (Ed. impr.) ; 152(4): 135-145, feb. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-181880

RESUMO

Antecedentes y objetivos: El incremento descrito en la prevalencia de hemoglobinopatías, de ß-talasemia mayor (TM) y de enfermedad drepanocítica (ED) que ha ocurrido en las últimas dos décadas en nuestro país ha generado nuevas necesidades en cuanto a recursos médicos tanto para la prevención como para el tratamiento de estos pacientes. El trasplante alogénico de progenitores hematopoyéticos (alo-TPH) es el tratamiento curativo disponible en nuestro medio para pacientes con hemoglobinopatías graves. El objetivo principal de este estudio fue conocer los resultados del alo-TPH en pacientes pediátricos con TM o ED realizados en unidades de trasplante hematopoyético pediátrico incluidas dentro del Grupo Español de Trasplante de Médula Ósea en Niños (GETMON). Material y métodos: Revisión retrospectiva de los pacientes sometidos a TPH en unidades de TPH del GETMON hasta el año 2015. Resultados: Se analizaron un total de 65 pacientes (43 pacientes afectados de TM y 22 de ED) que recibieron el alo-TPH en 6 unidades GETMON entre noviembre de 1989 y diciembre de 2014. La supervivencia libre de eventos 3años postrasplante fue del 81% y la supervivencia global del 92% en pacientes con TM. La supervivencia libre de eventos 3años postrasplante fue del 79% y la supervivencia global del 85% en pacientes con ED. Conclusiones: Los resultados de esta serie son comparables a los resultados de otras series internacionales y ofrecen un punto de partida para continuar intentando mejorar la evolución de estos pacientes


Background and objectives: A recently occurring increase of the prevalence of haemoglobinopathies, ß-thalassaemia major (TM) and sickle cell disease (SCD) over the last two decades in our country has generated new needs in terms of medical resources for both prevention and treatment of these patients. Allogeneic haematopoietic stem cell transplant (allo-HSCT) is a curative treatment available for patients who have severe haemoglobinopathies. The main objective of this study was to evaluate the results of allo-HSCT in paediatric patients with TM or SCD performed in paediatric hematopoietic transplant units within the Spanish Group of Bone Marrow Transplantation in Children (GETMON). Material and methods: Retrospective review of patients undergoing HSCT in the GETMON units until 2015. Results: A total of 65 patients were analysed (43 patients were affected with TM and 22 with SCD), who received allo-HSCT in 6 GETMON units between November 1989 and December 2014. Event-free survival three years post-transplant was 81% and overall survival 92% in patients with TM. Event-free survival three years post-transplant was 79% and overall survival 85% in patients with SCD. Conclusions: The results of this series are comparable to the results of other international series and offer a platform from which to continue trying to improve the evolution of these patients


Assuntos
Humanos , Transplante de Células-Tronco Hematopoéticas , Talassemia/epidemiologia , Hemoglobinopatias/epidemiologia , Transplante Homólogo/métodos , Neutrófilos/transplante , Hemoglobinopatias/prevenção & controle , Hemoglobinopatias/terapia , Estudos Retrospectivos , Sociedades Médicas/normas , Doença Enxerto-Hospedeiro , Sobrevivência
10.
Curr Urol Rep ; 20(1): 4, 2019 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-30656488

RESUMO

PURPOSE OF THE REVIEW: We present an updated report of renal medullary carcinoma (RMC), a rare and aggressive condition. RECENT FINDINGS: There is a majority of male patients, of African descent, in the second or third decade of life. In differential diagnosis, other tumors, such as malignant rhabdoid tumor (MRT), vinculin-anaplastic lymphoma kinase (VCL-ALK) translocation renal cell carcinoma, and collecting duct carcinoma, may present difficulties. Abnormalities of tumor suppressor gene SMARCB1 have been found in RMC. Reported symptoms were hematuria, pain, weight loss, respiratory distress, palpable mass, cough, and fever. Most patients present with metastases at diagnosis. There is no definite recommended treatment, and protocols are extrapolated from other malignancies, with nephrectomy and systemic therapies being most frequently used. Response to treatment and prognosis remain very poor. RMC is a rare and aggressive tumor. Definitive diagnosis requires histological assessment and the presence of sickle-cell hemoglobinopathies.


Assuntos
Carcinoma Medular/patologia , Neoplasias Renais/patologia , Distribuição por Idade , Anemia Falciforme/epidemiologia , Carcinoma Medular/diagnóstico , Carcinoma Medular/epidemiologia , Carcinoma Medular/terapia , Quimioterapia Adjuvante , Diagnóstico Diferencial , Hemoglobinopatias/epidemiologia , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/epidemiologia , Neoplasias Renais/terapia , Nefrectomia , Prognóstico , Radioterapia Adjuvante , Doenças Raras , Distribuição por Sexo
11.
Ann Hematol ; 98(1): 55-66, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30196444

RESUMO

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form. Four thousand thirty-two patients were eligible for inclusion; more than half of them had thalassaemia major. Compared to the previous report, a reduction in the total number of all hemoglobinopathies except for hemoglobinopathy "Η" was evident. The total number of affected births was also reduced; most of them were attributable to diagnostic errors and lack of awareness. Importantly, data on iron overload are reported for the first time; although most patients had low or moderate liver iron concentration (LIC) values, a non-negligible proportion of patients had high LIC. The burden due to heart iron overload was less prominent. Cardiac- and liver-related complications are the major causes of morbidity and mortality. From 2000 to 2015, a decrease in heart-related deaths along with an increase in liver-associated fatalities was observed. The Hellenic Prevention Program along with advances in chelation regimens and iron status monitoring have resulted in improved patient outcomes. The NRHG gives insight into the effectiveness of prevention programs, the therapeutic management of hemoglobinopathies and associated outcomes. NRHG may contribute to the formulation of a roadmap for hemoglobinopathies in Europe and promote the implementation of effective public health policies.


Assuntos
Hemoglobinopatias/epidemiologia , Sistema de Registros , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Grécia/epidemiologia , Cardiopatias/sangue , Cardiopatias/epidemiologia , Cardiopatias/etiologia , Hemoglobinopatias/complicações , Hemoglobinopatias/metabolismo , Humanos , Lactente , Ferro/metabolismo , Sobrecarga de Ferro/sangue , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Fígado/metabolismo , Hepatopatias/sangue , Hepatopatias/epidemiologia , Hepatopatias/etiologia , Masculino , Pessoa de Meia-Idade
12.
Rev. cuba. oftalmol ; 31(4): 67-73, oct.-dic. 2018. ilus
Artigo em Espanhol | LILACS | ID: biblio-991114

RESUMO

El hipema traumático es la presencia de sangre en la cámara anterior y puede presentarse en traumas oculares a globo abierto o cerrado, así como coexistir con otras lesiones. Se presenta un paciente masculino de 52 años de edad, coloración de la piel negra, quien sufrió un trauma contuso del ojo derecho que le provocó hipema y requirió ingreso hospitalario. A pesar del tratamiento médico convencional, evolucionó desfavorablemente, ya que presentó resangrado tardío. motivados por esto le indicamos un estudio de electroforesis de hemoglobina e incorporamos un tratamiento sistémico con antifibrinolíticos. Se obtuvo resolución de la hemorragia en las primeras 48 horas de iniciar el tratamiento. Se concluye que el uso de antifibrinolíticos resulta efectivo para el tratamiento del hipema postraumático en pacientes con hemoglobinopatías(AU)


Trauma hyphema is the presence of blood in the anterior chamber and may occur in open or closed eyeball traumas as well as coexist in other lesions. This is the case of a Black male patient aged 52 years, who suffered a blunt trauma in his right eye causing hyphema and requiring hospitalization. Despite the conventional medical treatment, the recovery was unfavorable since he presented with late rebleeding. Due to the above-mentioned condition, he was performed a hemoglobin electrophoresis study and he received a systemic treatment with antifibrinolytics. Hemorrhage disappeared after 48 hours of treatment. It was concluded that the use of antifibrinolytics is effective for the treatment of post-trauma hyphema in patients with hemoglobinopathy. Key words: Hyphema; antifibrinolytics; hemoglobinopathy(AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Hifema/tratamento farmacológico , Hemoglobinopatias/epidemiologia , Antifibrinolíticos/uso terapêutico
13.
Rev. cuba. oftalmol ; 31(4): 67-73, oct.-dic. 2018. ilus
Artigo em Espanhol | CUMED | ID: cum-73498

RESUMO

El hipema traumático es la presencia de sangre en la cámara anterior y puede presentarse en traumas oculares a globo abierto o cerrado, así como coexistir con otras lesiones. Se presenta un paciente masculino de 52 años de edad, coloración de la piel negra, quien sufrió un trauma contuso del ojo derecho que le provocó hipema y requirió ingreso hospitalario. A pesar del tratamiento médico convencional, evolucionó desfavorablemente, ya que presentó resangrado tardío. motivados por esto le indicamos un estudio de electroforesis de hemoglobina e incorporamos un tratamiento sistémico con antifibrinolíticos. Se obtuvo resolución de la hemorragia en las primeras 48 horas de iniciar el tratamiento. Se concluye que el uso de antifibrinolíticos resulta efectivo para el tratamiento del hipema postraumático en pacientes con hemoglobinopatías(AU)


Trauma hyphema is the presence of blood in the anterior chamber and may occur in open or closed eyeball traumas as well as coexist in other lesions. This is the case of a Black male patient aged 52 years, who suffered a blunt trauma in his right eye causing hyphema and requiring hospitalization. Despite the conventional medical treatment, the recovery was unfavorable since he presented with late rebleeding. Due to the above-mentioned condition, he was performed a hemoglobin electrophoresis study and he received a systemic treatment with antifibrinolytics. Hemorrhage disappeared after 48 hours of treatment. It was concluded that the use of antifibrinolytics is effective for the treatment of post-trauma hyphema in patients with hemoglobinopathy. Key words: Hyphema; antifibrinolytics; hemoglobinopathy(AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Hifema , Hemoglobinopatias/epidemiologia , Antifibrinolíticos/uso terapêutico
14.
Einstein (Sao Paulo) ; 16(2): eAO4150, 2018 Jun 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-29898086

RESUMO

OBJECTIVE: To evaluate the incidence of variant hemoglobins in different health regions. METHODS: A descriptive, observational, and cross-sectional study with a quantitative approach based on secondary data in the internal records of the neonatal screening service - Laboratório Central de Saúde Pública do Estado do Piauí (PI, Brazil). The variables related to sex, ethnicity and positive diagnosis for variant hemoglobins were analyzed, with further population distribution of hemoglobinopathies among the macroregions of the state. RESULTS: A total of 69,180 samples of newborns were analyzed, and 3,747 were diagnosed as hemoglobinopathies, from February 1st, 2014 and December 31st, 2015. Sickle cell trait was the most frequent (4.1%), followed by hemoglobinopathy C in 0.9%; homozygous hemoglobin S cases 0.1% stood out and there were no cases of hemoglobinopathy D in the state. It is also worth noting that the highest frequencies of hemoglobin alterations in Piauí were in males (49.8%) and of parda skin color (38.5%). The region of Piauí presenting the highest incidence of heteroygous variant hemoglobins was Tabuleiros do Alto Parnaíba and Vale do Sambito, due to importance of the region's population Entre Rios. CONCLUSION: Neonatal screening programs are important for screening, orientations regarding health actions and monitoring of families with hemoglobinopathies, in order to reduce morbidity and mortality rates.


Assuntos
Hemoglobinopatias/epidemiologia , Hemoglobinas/análise , Triagem Neonatal , Brasil/epidemiologia , Grupos de Populações Continentais , Estudos Transversais , Demografia , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/etnologia , Humanos , Incidência , Recém-Nascido , Laboratórios/estatística & dados numéricos , Masculino , Distribuição por Sexo
15.
Annu Rev Genomics Hum Genet ; 19: 355-380, 2018 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-29751732

RESUMO

Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and ß-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.


Assuntos
Hemoglobinopatias/diagnóstico , Grupos Populacionais , Vigilância da População , Criança , Feminino , Hemoglobinopatias/epidemiologia , Humanos , Recém-Nascido , Gravidez
16.
Exp Hematol ; 64: 12-32, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29807062

RESUMO

The ß-hemoglobinopathies, transfusion-dependent ß-thalassemia and sickle cell disease, are the most prevalent inherited disorders worldwide and affect millions of people. Many of these patients have a shortened life expectancy and suffer from severe morbidity despite supportive therapies, which impose an enormous financial burden to societies. The only available curative therapy is allogeneic hematopoietic stem cell transplantation, although most patients do not have an HLA-matched sibling donor, and those who do still risk life-threatening complications. Therefore, gene therapy by one-time ex vivo modification of hematopoietic stem cells followed by autologous engraftment is an attractive new therapeutic modality. The first proof-of-principle of conversion to transfusion independence by means of a lentiviral vector expressing a marked and anti-sickling ßT87Q-globin gene variant was reported a decade ago in a patient with transfusion-dependent ß-thalassemia. In follow-up multicenter Phase II trials with an essentially identical vector (termed LentiGlobin BB305) and protocol, 12 of the 13 patients with a non-ß0/ß0 genotype, representing more than half of all transfusion-dependent ß-thalassemia cases worldwide, stopped red blood cell transfusions with total hemoglobin levels in blood approaching normal values. Correction of biological markers of dyserythropoiesis was achieved in evaluated patients. In nine patients with ß0/ß0 transfusion-dependent ß-thalassemia or equivalent severity (ßIVS1-110), median annualized transfusion volume decreased by 73% and red blood cell transfusions were stopped in three patients. Proof-of-principle of therapeutic efficacy in the first patient with sickle cell disease was also reported with LentiGlobin BB305. Encouraging results were presented in children with transfusion-dependent ß-thalassemia in another trial with the GLOBE lentiviral vector and several other gene therapy trials are currently open for both transfusion-dependent ß-thalassemia and sickle cell disease. Phase III trials are now under way and should help to determine benefit/risk/cost ratios to move gene therapy toward clinical practice.


Assuntos
Vetores Genéticos/uso terapêutico , Hemoglobinopatias/terapia , Lentivirus/genética , Anemia Falciforme/terapia , Transfusão de Sangue , Ensaios Clínicos como Assunto , Países em Desenvolvimento , Edição de Genes , Vetores Genéticos/genética , Carga Global da Doença , Transplante de Células-Tronco Hematopoéticas , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/genética , Humanos , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/prevenção & controle , Mutagênese Sítio-Dirigida , Prevalência , Proteínas Recombinantes/genética , Condicionamento Pré-Transplante/métodos , Globinas beta/genética , Talassemia beta/terapia
17.
Clin. biomed. res ; 38(2): 123-127, 2018.
Artigo em Inglês | LILACS | ID: biblio-1024914

RESUMO

Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this study was to evaluate the public National Newborn Screening Program in the municipality of Carazinho, state of Rio Grande do Sul (RS), Brazil. Methods: This was a population-based, retrospective, descriptive study. We collected and transcribed data from a database of the Carazinho municipal laboratory, which is affiliated with the referral center for newborn screening in RS. The records of all individuals undergoing newborn screening from 2005 to 2010 were reviewed, and information was collected on the program coverage, time elapsed between birth and screening (first collection), and test results. Results: The program had a coverage of 75.5%. One suspected case of phenylketonuria, three suspected cases of congenital hypothyroidism and no suspected cases of hemoglobinopathy were identified. In addition, there were 18 positive results for hemoglobin S heterozygosity, five for hemoglobin D heterozygosity, two for hemoglobin C heterozygosity, and one for a rare variant hemoglobin. When analyzing the newborn's age at the time of blood collection, it was observed that 63.1% were within the recommended age range. Conclusions: Our findings suggest the need for optimization of public newborn screening in the evaluated municipality. The strategies to be adopted should include education of the population and especially of managers and health professionals about the importance of newborn screening. (AU)


Assuntos
Humanos , Recém-Nascido , Fenilcetonúrias/epidemiologia , Triagem Neonatal/métodos , Hemoglobinopatias/epidemiologia , Saúde Pública/estatística & dados numéricos
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(5): 662-665, 2017 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-28981928

RESUMO

OBJECTIVE: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program. METHODS: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait. The remaining samples with positive phenotype and unknown mutations were subjected to DNA sequence analysis. RESULTS: Two hundred and forty individuals were found to be carriers of hemoglobinopathic mutations, which included 6 common alpha-thalassemia deletions, 9 common beta-thalassemia mutations and 3 common structural hemoglobin variants. One hundred and seventy-four mutant alleles for alpha-thalassemia were detected, which gave a carrier rate of 8.69%, of which 0.1% was due to HbH disease. Seventy mutant alleles for beta-thalassemia were detected, which gave a carrier rate of 3.50%. Seven subjects (0.35%) were identified as carriers of hemoglobin variants. The overall carrier rate for hemoglobinopathic mutations was 12.54% based on detection of 251 hemoglobinopathy mutant alleles. The overall carrier rate for alpha- and beta-thalassemia among ethnic Yaos was 25.00%, which was significantly higher than that of ethnic Han Chinese (11.14%, P< 0.01). CONCLUSION: The prevalence and mutation spectrum of hemoglobinopathies in Yongzhou area has been delineated for the first time.


Assuntos
Hemoglobinopatias/genética , Mutação , Adulto , China/epidemiologia , China/etnologia , Feminino , Hemoglobinopatias/epidemiologia , Heterozigoto , Humanos , Masculino , Epidemiologia Molecular , Adulto Jovem
19.
EBioMedicine ; 23: 150-159, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28865746

RESUMO

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 ß-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Técnicas de Genotipagem , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Sequenciamento de Nucleotídeos em Larga Escala , Adolescente , Adulto , Estudos de Casos e Controles , China/epidemiologia , Índices de Eritrócitos , Estudos de Associação Genética/métodos , Triagem de Portadores Genéticos , Testes Genéticos/métodos , Variação Genética , Genótipo , Geografia Médica , Hemoglobinopatias/epidemiologia , Hemoglobinas Anormais/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Vigilância da População , Prevalência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Adulto Jovem
20.
Pan Afr Med J ; 27: 150, 2017.
Artigo em Francês | MEDLINE | ID: mdl-28904678

RESUMO

Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330.000 cases of hemoglobinopathy occur each year (83% of cases of sickle cell anemia, 17 % of cases of thalassemia). Hemoglobin disorders are responsible for approximately 3.4% of deaths among people under the age of 5. At the global level, approximately 7% of pregnant women would be carriers of a form of thalassemia and 1% of couples are at risk. However, they are relatively frequent in some regions of the globe where consanguineous marriages are common. We conducted a descriptive cross-sectional study based on two surveys, the first in May 2015 and the second in June of the same year. It was performed in the immunization days to deliver pneumococcal vaccine to the index cases and it was aimed to describe the epidemiological features of families at risk of hemoglobinopathies (index case study), whose index cases were treated in the Department of Pediatrics at the Provincial Hospital El Idrisi, Kenitra, Morocco. After having collected the epidemiological data from patients, laboratory tests were performed including: blood count with red blood cells morphological assessment using the MGG assay and automatic numbering of reticulocytes; hemoglobin electrophoresis at alkaline pH (8.8) and then at acid pH (5.4) on agarose gel and densitometric integration. 275 patients had laboratory profiles compatible with hemoglobinopathy. The majority of these patients were born to consanguineous marriages (83.1%) and came from the north regions of Morocco. This family survey allowed to identify families at risk with a high frequency of sickle cell anemia. Our results confirm the existence of hemoglobinopathies variants among Moroccan population.


Assuntos
Anemia Falciforme/epidemiologia , Hemoglobinopatias/epidemiologia , Reticulócitos/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Consanguinidade , Estudos Transversais , Eletroforese em Gel de Ágar/métodos , Feminino , Humanos , Concentração de Íons de Hidrogênio , Lactente , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Adulto Jovem
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