Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.

Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas-de-Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post-information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas-de-Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.

Update on the practice of premarital screening for sickle cell traits in Africa: a systematic review and meta-analysis.

BACKGROUND: Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening. METHODS: This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits. RESULTS: Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I2: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (ß = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables. CONCLUSION: With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.

Splenic Subcapsular Hematoma from Commercial Air Travel: Case Report of a Unique Incident of Altitude-Associated Splenic Syndrome.

BACKGROUND: Sickle cell trait (SCT), the heterozygous form of sickle cell disease, is generally thought of as a benign condition. However, it is possible for those with SCT to have serious complications, especially when they are exposed to high altitudes where oxygen levels are low. CASE REPORT: We present a case of a 41-year-old man with a history of SCT who developed severe epigastric pain and nearly lost consciousness while traveling on a commercial airplane. His twin brother, who also has SCT, had a similar episode in the past and required a splenectomy. A splenic subcapsular hematoma was found in a computed tomography scan of the abdomen and pelvis with intravenous contrast. He was admitted and managed conservatively until his symptoms resolved. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Though SCT is prevalent in our population, the complications that can arise, such as altitude-associated splenic syndrome, have likely not been thoroughly investigated. Physicians should add this condition to their differential if they practice at locations near airports or in areas of higher altitude and if their patients have a past medical history of SCT.

Occlusive Retinal Vasculitis in a Pediatric Patient With Kikuchi-Fujimoto Disease and Sickle Cell Trait.

A 13-year-old Black male patient with a history of Kikuchi-Fujimoto disease (KFD) and sickle cell trait presented with acute painless vision loss and no light perception vision (NLP) in his left eye. The examination was indicative of occlusive retinal vasculitis with near total central retinal artery occlusion (CRAO). He was started on oral steroids with dramatic reperfusion and improvement of the retinal hemorrhages. However, his vision remained at NLP. Oral steroids were tapered, and rituximab infusion was initiated. While ocular involvement is uncommon in KFD, vision-limiting complications, such as occlusive retinal vasculitis, ophthalmic artery occlusion, and CRAO can occur. Early systemic immunosuppression is key in achieving rapid remission. [Ophthalmic Surg Lasers Imaging Retina 2024;55:235-239.].

Prevalence of sickle cell trait and needs assessment for uptake of sickle cell screening among secondary school students in Kampala City, Uganda.

BACKGROUND: Sickle cell disease (SCD) is one of the most frequent and traumatizing genetic disease in Uganda, with the prevalence of the sickle cell trait (SCT) estimated at 13.3% leading to serious psycho-social and economic impact on the patients and their families. AIM: This study aimed to determine the burden of SCT and factors influencing the uptake of screening services among secondary school students in Uganda. METHODS: We used an analytical cross-sectional design with a multi-stage sampling approach. A total of 399 students from four secondary schools in Kampala City were enrolled in this study. Data were gathered using semi-structured questionnaires and blood screening. We used the sickling test to determine the presence of sickle cell alleles among the participants and hemoglobin electrophoresis as a confirmatory test. Data gathered using the questionnaire were analyzed using descriptive and inferential statistics. RESULTS: In total, 5.8% of participants who were tested during this study had SCT. Most (80.2%) participants were not in an intimate relationship at the time of data collection. The majority (60.4%) had moderate knowledge about SCT screening and obtained information about screening from the school. Only 29 (7.3%) participants knew of a family member with sickle cell. Overall, participants had a negative attitude toward SCT screening (67%), although 41.6% believed that most people who were sickle cell carriers did not live long and were often sick. Statistically significant associations were found between testing for SCT and knowing a partner's sickle cell status (odds ratio [OR] 2.112, p = 0.043) and Anglican religion (OR 2.075, p = 0.047). CONCLUSION: Despite the moderate level of knowledge and negative attitudes, a relatively large number of participants had SCT. This highlights the need for a comprehensive health education package targeting adolescents to promote SCD/SCT screening.

Falsa reactividad serológica en gestantes portadoras sanas de sicklemia / False serologic reactivity in healthy pregnant women with sickle cell anemia

Se presenta el caso de una embarazada perteneciente a un consultorio médico de familia del Policlínico Flores Betancourt, municipio Artemisa; la cual desconocía su estado de portadora sana de Hemoglobina S, con resultados serológicos débil reactivos durante toda su gestación y aún después de esta, sin elementos clínicos ni epidemiológicos que hicieran considerar una sífilis en el embarazo. Se procedió a estudiar las causas agudas y crónicas, más conocidas en nuestro medio como falsas reactivas, arribándose a conclusiones novedosas, hasta ahora no referidas en reportes nacionales o internacionales, con respecto a la relación existente entre el estado de portador sano de siclemia y el resultado serológico Falso Reactivo(AU)

The case of a pregnant woman is presented here. She was patient of a family doctor's office at Flores Betancourt Polyclinic in Artemisa municipality. This patient did not know her state of healthy carrier of Hemoglobin S, with weak reactive serologic results throughout her pregnancy and even afterwards. No clinical or epidemiological elements would lead to consider syphilis in pregnancy. The best known acute and chronic causes in our environment were studied as false reactive, reaching to new findings, so far not referred in national or international reports, regarding the relationship between the state of healthy carrier of sicklemia and false reagent serology(AU)

Enfermedad de células falciformes en el embarazo / Sickle Cell Disease in Pregnancy

La anemia de células falciformes o drepanocitosis, es una de las hemoglobinopatías estructurales más comunes en el mundo. La clínica se resume en oclusión vascular e isquemia tisular, anemia hemolítica y la susceptibilidad a infecciones. La procreación en mujeres con hemoglobinopatías deviene un grave problema de salud, que exige una atención diferenciada y multidisciplinaria. Para esta afección no existe tratamiento especifico definitivo, el arsenal medico existente solo puede manejar los efectos y no la causa. La siguiente revisión tiene como objetivo ofrecer a los profesionales algunos aspectos relacionados con la fisiopatología, una discusión del problema clínico, diagnóstico y opciones terapéuticas de la enfermedad, lo que permite contribuir en la reducción de la morbilidad y mortalidad materna y perinatal. Se concluye que un alto índice de perspicacia y buen diagnóstico es menester para obtener resultados óptimos en las embarazadas afectadas por enfermedad de células falciformes(AU)

Sickle cell anemia or sickle cell disease is one of the most common structural hemoglobinopathies in the world. The clinic is summarized in vascular occlusion and tissue ischemia, hemolytic anemia and vulnerability to infections. Procreation in women with hemoglobinopathies becomes a serious health problem that requires a differentiated and multidisciplinary care. There is no definitive specific treatment for this condition, the existing medical resources can only address the effects and not the cause. The following review aims to offer professionals some aspects related to the pathophysiology, a discussion of the clinical problem, diagnosis and treatment options, which can contribute in reducing morbidity and maternal and perinatal mortality. It is concluded that high level of insight and good diagnosis are necessary for optimum results in pregnant women affected by sickle cell disease(AU)

Bioética en el diagnóstico prenatal en la drepanocitosis / Bioethics in prenatal diagnosis of sickle cell disease

El desarrollo de la biología molecular y la aplicación de técnicas altamente sensibles han permitido conocer mejor las bases genéticas de las enfermedades hereditarias y utilizarlas en prevenir, diagnosticar y tratarlas. En Cuba el estado de portador de la hemoglobina S es del 3,08 por ciento por lo que representa un problema de salud pública y desde la década del 90 del siglo pasado se realiza el diagnóstico prenatal de la enfermedad, cumpliendo los principios éticos de autonomía, beneficencia, no maleficencia y justicia. El conflicto ético más importante surge cuando se cuestiona el beneficio de la información obtenida por el diagnóstico prenatal para el feto, los padres y la sociedad. El diagnóstico prenatal de la drepanocitosis en Cuba tiene un importante impacto científico-social y requiere de un trabajo serio desde la atención primaria de salud, brindando apoyo científico-técnico a la pareja de riesgo y su futuro hijo pero respetando siempre sus derechos bioéticos(AU)

The development of molecular biology and the application of highly sensitive techniques have allowed better understanding genetic basis of hereditary diseases and use them to prevent, diagnose and treat. In Cuba hemoglobin S trait is the 3.08 percent in the general population and until 17 percent in African descent, which represents a public health problem and since the 90' prenatal diagnosis of the disease is made, fulfilling the ethical principles of autonomy, beneficence, non-maleficence and justice. The most important ethical conflict arises when is questioned who benefits from information obtained from prenatal diagnosis: the fetus, parents or society. Prenatal diagnosis of sickle cell disease in Cuba has an important scientific and social impact, and requires serious work from primary health care, providing scientific and technical support for the venture the couple of risk and their future son while respecting their bioethical rights(AU)

Traço falciforme como potencial determinante da progressão de doenças renais em Salvador/Bahia / sickle cell trait as a potential determinant of progression of kidney disease in Salvador / Bahia

INTRODUÇÃO: A doença renal crônica (DRC) é uma doença grave que atinge cerca de 10% da população mundial. Devido à perda irreversível da função dos rins, os pacientes precisam do tratamento dialítico e desde 2010, no Brasil, a taxa de pacientes em diálise cresce de 3% cada ano. Cerca 93% do tratamento está financiado pelo SUS o que corresponde a 10% do orçamento do Ministério da Saúde. As principais causas de DRC no Brasil e no mundo são diabetes mellitus (DM) e hipertensão arterial sistêmica (HAS), seguido de glomerulopatias. As alterações podem ser complicadas por condições de hipóxia tecidual, as quais podem ser intensificadas pela doença falciforme. Os indivíduos com traço falciforme podem apresentar esse quadro clínico em condições extremas como um esforço físico intenso e prolongado. OBJETIVO: O objetivo deste estudo foi investigar a associação entre o traço falciforme e a progressão de DRC em Salvador-BA. MATERIAL E MÉTODOS: Foi desenvolvido um estudo de corte transversal, no qual no período de maio de 2014 até novembro de 2015...

INTRODUCTION: Chronic Kidney Disease (CKD) is a serious disease that affects about 10% of world population. It is due to irreversible loss of kidney function, so necessitating the patient’s need of dialysis treatment and since 2010, in Brazil, the rate of patients on dialysis is growing by 3% each year. About 93% of the treatment is funded by SUS which corresponds to 10% of the Health Ministry´s budget. The main causes of CKD in Brazil and in the world are diabetes mellitus and arterial hypertension, followed by glomerulopathies. The alterations can be complicated by conditions of tissue hypoxia, which can be intensified by the sickle cell disease. Individuals with sickle cell trait, although asymptomatic may present these clinical features in extreme conditions such as intense and prolonged physical activities. AIM: The aim of this study was to investigate the association between sickle cell trait and progression of CKD in patients on hemodialysis (HD) in Salvador, Bahia. MATERIAL AND METHODS: A cross-sectional cohort study was conducted from May 2014 to November 2015...

Prevalência das hemoglobinas S e C em heterozigose em duas comunidades de povos de Terreiros na cidade de Teresina, Piauí / Prevalence of hemoglobins S and C in heterozygous in two communities of Umbanda Temple in the city of Teresina, Piauí, Brazil

Doença hereditária de maior prevalência no Brasil e no mundo, a doença falciforme é considerada problema de saúde pública. Indivíduos que apresentam a HbS em homozigose (SS) evidenciam uma condição grave da doença, enquanto indivíduos com a HbS em heterozigose AS e AC (traço falciforme), não apresentam manifestações clínicas, conferindo uma vida normal ao seu portador. O presente estudo objetivou fornecer subsídios para a consolidação do Programa Estadual da Doença Falciforme no estado do Piauí, apresentando a prevalência da doença falciforme e a sua herança genética em 62 indivíduos frequentadores de terreiros de Umbanda. A determinação das hemoglobinas variantes foi realizada por cromatografia líquida de alta performance (HPLC), utilizando o analisador de hemoglobinas Variant-II (Biorad). O estudo evidenciou a presença das hemoglobinas Hb AS (N=4) 6,5%; Hb AC (N=3) 4,8%; Hb SC (N=2) 3,2%. Dos 62 indivíduos pesquisados com Hemoglobinas variantes, 19 eram do sexo masculino, enquanto 43 eram do sexo feminino. Apresentaram hemoglobinas variantes 7 mulheres e 2 homens. A maioria da população estudada estava constituída por pessoas negras (87%), seguido por pardos (8%) e brancos (5%). A soma da porcentagem de negros e pardos é de 95%. O presente estudo piloto corrobora a hipótese da prevalência elevada da doença falciforme e da sua herança genética na população negra do estado do Piauí, necessitando da sua continuidade, com cobertura de maior quantidade do universo de terreiros, aliada a ações de atenção à saúde.(AU)

Hereditary disease most prevalent in Brazil and worldwide, sickle cell disease is considered a public health problem. Individuals who present in homozygous HbS (SS) show a severe condition of the disease, while individuals with heterozygous HbS AC and AS (sickle cell trait) show no clinical manifestations, giving a normal life to its bearer. The present study aimed to provide support for the consolidation of the state program of sickle cell disease in Piauí state, present the prevalence of sickle cell disease and its genetic inheritance in 62 individuals goers yards of Umbanda Temple. The determination of hemoglobin variants was performed by high performance liquid chromatography (HPLC) using the analyzer-II variant hemoglobins (Biorad). The study revealed the presence of hemoglobin Hb AS (N = 4) 6.5%; Hb AC (N = 3) 4.8%; Hb SC (N = 2) 3.2%. Of the 62 individuals surveyed with Hemoglobin variants, 19 were male while 43 were female. Showed hemoglobin variants 7 women and 2 men. The majority of the study population was constituted by black people (87%), followed by brown (8%) and whites (5%). The sum of the percentage of blacks and browns is 95%. This pilot study supports the hypothesis of a high prevalence of sickle cell disease and its genetic inheritance in the black population of the state of Piauí, requiring its continuity, covering much of the universe of Umbanda Temple, combined with actions of health care.(AU)

Traço falciforme como potencial determinante da progressão de doenças renais em Salvador/Bahia / sickle cell trait as a potential determinant of progression of kidney disease in Salvador / Bahia

INTRODUÇÃO: A doença renal crônica (DRC) é uma doença grave que atinge cercade 10% da população mundial. Devido à perda irreversível da função dos rins, os pacientes precisam do tratamento dialítico e desde 2010, no Brasil, a taxa de pacientes em diálise cresce de 3% cada ano. Cerca 93% do tratamento está financiado pelo SUS o que corresponde a 10% do orçamento do Ministério da Saúde. As principais causas de DRC no Brasil e no mundo são diabetes mellitus (DM) e hipertensão arterial sistêmica (HAS), seguido de glomerulopatias. As alterações podem ser complicadas por condições de hipóxia tecidual, as quais podem ser intensificadas pela doença falciforme. Os indivíduos com traço falciforme podem apresentar esse quadro clínico em condições extremas como um esforço físico intenso e prolongado. OBJETIVO: O objetivo deste estudo foi investigar a associação entre o traço falciforme e a progressão de DRC em Salvador-BA. MATERIAL E MÉTODOS: Foi desenvolvido um estudo de corte transversal, no qual no período de maio de 2014 até novembro de 2015; foram incluídos 306 indivíduos portadores de DRC em programa de hemodiálise nos hospitais e clínicas de referência tais como, Instituto de Nefrologia e Diálise (INED), Hospital Ana Nery (HAN) e Hospital Geral Roberto Santos (HGRS) há no máximo três anos. cinco mililitros (mL) de sangue total foram coletados em cada paciente para a caracterização do perfil de hemoglobinas variantes pela técnica de cromatografia líquida de alta eficiência (HPLC). Como grupo controle, foram utilizados os resultados dos testes de triagem neonatal do APAE realizados em recém-nascidos em Salvador de 2012-2014. RESULTADOS: A frequência de HbAS foi significamente maior nos pacientes em hemodiálise (10,2%) em comparação ao grupo controle (5,05%) OR: 2,04 IC 95% (1,35–2,99). Quando comparamos os pacientes com DRC com e sem traço falciforme, não houve diferença em relação à distribuição do sexo (homens 57,6% vs 50%, respectivamente, p = 0,43). A média de idade não foi diferente entre os dois grupos (52 ± 1 anos vs 56 ± 2, p = 0,21).CONCLUSÕES: A frequência do traço falciforme é maior em pacientes portadores de DRC em programa de hemodiálise em comparação à população geral. Estudos que avaliam o impacto e fisiopatologia da doença renal em indivíduos portadores de traço falciforme podem fornecer informações importantes para desenvolvimento de estratégias de prevenção da progressão para estágio final da doença renal.

INTRODUCTION: Chronic Kidney Disease (CKD) is a serious disease that affects about 10% of world population. It is due to irreversible loss of kidney function, so necessitating the patient’s need of dialysis treatment and since 2010, in Brazil, the rate of patients on dialysis is growing by 3% each year. About 93% of the treatment is funded by SUS which corresponds to 10% of the Health Ministry´s budget. The main causes of CKD in Brazil and in the world are diabetes mellitus and arterial hypertension, followed by glomerulopathies. The alterations can be complicated by conditions of tissue hypoxia, which can be intensified by the sickle cell disease. Individuals with sickle cell trait, although asymptomatic may present these clinical features in extreme conditions such as intense and prolonged physical activities. AIM: The aim of this study was to investigate the association between sickle cell trait and progression of CKD in patients on hemodialysis (HD) in Salvador, Bahia. MATERIAL AND METHODS: A cross-sectional cohort study was conducted from May 2014 to November 2015. The subjects consisted of 394 of both sexes with chronic renal failure on hemodialysis sessions for up to three years and treated in hospitals and clinics of reference such as the Institute of Nephrology and Dialysis (INED), Ana Nery’s Hospital (HAN) and Roberto Santos General Hospital (HGRS). 5mls of whole blood was collected from each patient to characterize the hemoglobin variants profile by High Performance Liquid Chromatography (HPLC). As a control group, the results of neonatal screening tests of APAE performed on newborns in Salvador 2012-2014 were used. RESULTS: The frequency of HbAS was significantly higher in hemodialysis patients (10.2%) compared to the control group (5.05%) OR: 2.04 95% CI (1.35 to 2.99). When comparing patients with CKD with and without sickle cell trait, there was no difference in relation to the distribution of sex (men 57.6% vs 50%, respectively, p = 0.43). The mean age was not different between the two groups (52 ± 1 years vs 56 ± 2, p = 0.21)...

Ocorrência de hemoglobina S no estado de Mato Grosso do Sul, Brasil / Occurrence of hemoglobin S in Mato Grosso do Sul state, Brazil

INTRODUÇÃO: As hemoglobinopatias são as alterações genéticas mais comuns no homem, sendo a hemoglobina (Hb) S a mais freqüente entre todas. Sua ocorrência no estado de Mato Grosso do Sul ainda não foi sistematicamente avaliada. OBJETIVOS: Caracterizar a ocorrência de Hb S por genótipos, sexo, idade no momento do diagnóstico, índice de cobertura e prevalência em Mato Grosso do Sul. MATERIAL E MÉTODO: Estudo retrospectivo, transversal e descritivo, desenvolvido com os resultados de triagem neonatal para hemoglobinopatias, utilizando a técnica de cromatografia líquida de alta pressão, no Instituto de Pesquisas, Ensino e Diagnósticos da Associação de Pais e Amigos dos Excepcionais (IPED/APAE) de Mato Grosso do Sul em 2000-2005. RESULTADOS: De 190.809 indivíduos triados, 2.624 (1,38 por cento) encontraram-se alterados, correspondendo a 2.385 neonatos e 239 crianças maiores de 28 dias. Não houve diferença entre os sexos, sendo 1.335 do sexo feminino e 1.289 do masculino. Os genótipos alterados encontrados foram traço falciforme (FAS [99,16 por cento]) e doenças falciformes (FS [0,61 por cento] e FSC [0,23 por cento]). CONCLUSÃO: Esse primeiro estudo de triagem realizado no estado de Mato Grosso do Sul mostra que o programa desenvolvido pelo IPED/APAE está se solidificando no estado e avançando em relação ao índice de cobertura da população e ao diagnóstico precoce. Esses indicadores podem embasar ações preventivas (aconselhamento genético e estudos familiares) e assistenciais (tratamento ambulatorial contínuo), que visam à redução da morbimortalidade de indivíduos acometidos por essas afecções no estado.

BACKGROUND: Hemoglobinopathies are the most common genetic disorders in humans and Hb S is the most frequent among them. Its occurrence in the state of Mato Grosso do Sul has not been systematically analyzed yet. OBJECTIVES: To describe the occurrence of hemoglobin S according to genotypes, gender, age at the moment of diagnosis, cover index and prevalence in the state of Mato Grosso do Sul. MATERIAL AND METHOD: Retrospective, transversal and descriptive study of the results of neonatal screening for hemoglobinopathies performed with high pressure liquid chromatography technique at Instituto de Pesquisa, Ensino e Diagnósticos da Associação dos Pais e Amigos dos Excepcionais (IPED/APAE) in the state of Mato Grosso do Sul (2000-2005). RESULTS: Among 190,809 screened individuals, 2,624 (1.38 percent) showed alterations, 2,385 were neonates and 239 were children aged 28 days or more. There was no difference in gender (1,335 females and 1,289 males). The altered genotypes were FAS (99.16 percent), FS (0.61 percent) and FSC (0.23 percent). CONCLUSION: This first study of neonatal screening in the state of Mato Grosso do Sul revealed that the state program developed by IPED/APAE has been consolidating and advancing as to cover index and early diagnosis. These indicators may be the basis for preventive (genetic counseling and family studies) and assistance measures (continuous ambulatory treatment), which aim at the reduction of morbimortality in individuals with these hemoglobinopathies in the state.

Drepanocitosis o anemia de células falciformes y embarazo

La depranocitosis es una patología frecuente en la costa pacífica colombiana. Se hace una revisión de esta patología en el embarazo, ilustrándola con un caso clínico y demostrando que la morbimortalidad materna y fetal disminuyen si se realiza un diagnóstico precoz y un manejo adecuado

HbS heterozigótica e tuberculose pulmonar / Heterozygote HbS and pulmonary tuberculosis

Os estudos relativos ao traço falciforme e à tuberculose pulmonar säo raros e controvertidos, visto que a existência de uma associaçäo entre essas condiçöes é apontada por alguns autores e refutada por outros. Uma hipótese atual estabelece que a prevalência do traço falciforme estaria aumentada somente entre pacientes negróides em tratamento inicial da tuberculose pulmonar. Segundo esta hipótese, os indivíduos AS com tuberculose pulmonar procurariam tratamento mais precocemente que os indíviduos AA. No presente trabalho, o traço falciforme foi investigado entre 300 negróides do Sudeste Brasileiro (109 pretos e 191 mulatos) que estavam sob tratamento da tuberculose pulmonar em vários sanatórios. A freqüência de indivíduos AS entre eles (8,6 por cento) näo foi significativamente maior que a esperada entre negróides do Sudeste Brasileiro. Além disso, a freqüência do traço falciforme entre os pacientes em tratamento inicial (<- 6 meses) näo foi significativamente diferente daquela encontrada entre pacientes com mais de um ano de tratamento. Nenhuma associaçäo também foi encontrada entre o traço falciforme e o sexo ou a idade. Esses resultados, embora näo neguem que o traço falciforme possa eventualmente provocar efeitos de importância clínica em pacientes negróides con tuberculose pulmonar, indicam que tais efeitos näo devem afetar a freqüência de indivíduos AS entre eles