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.

Molecular basis of benign from sickle cell-B thalassemia syndrome in two nahraini patients

The aim was to study the different molecular determinants that might cause an extremely mild form of sickle cell beta thalassemia syndrome among our population. Two Bahraini students belonging to two unrelated families with normal clinical picture were noticed to have sickle cell beta thalassemia syndrome through hemoglobin electrophoresis. Different molecular genetic techniques were employed to study blood samples from these girls, namely, the polymerase chain reaction-restriction fragment polymorphism [PCR-RFLP], denaturing gradient gel electrophoresis [DGGE], and differential PCR amplification. Three different molecular determinants were found in these students for the beta. globin gene: Compound heterozygosity for the sickle cell mutation and nt 88 [C to A] mutation. Haplotype were shown to be the Saudi-Indian haplotype for the sickle cell mutation and haplotype No. IX for nt. 88 [C to A] mutation. Alpha- globin gene mapping revealed homozygosity for the rightward deletion [--alpha [3.7]/ -alpha[3.7]] for both students. different molecular determinants were found in association with this mild form of sickle cell beta-thalassemia disease: namely inheritance of mild beta+ thalassemic mutation, HbS haplotype- associated high HbF expression, and coinheritance of alpha-thalassemia. All of these modulators were found to give a mild state of sickle cell disease in our patients. This indicates that, molecular diagnostics techniques are of invaluable importance in giving a precise and definitive diagnosis, and to predict the clinical manifestation

Thalassemia and related hemoglobinopathies.

Hemoglobinopathies are the most common single gene disorders in man. There are several hundred of these disorders though the thalassemias -- alpha and beta and the sickling disorders make up the vast majority. Recent advances in the understanding of the hemoglobin structure and the genetics of its synthesis has contributed significantly to the understanding of these diseases. Disorders include those with reduced globin synthesis, abnormal globin chains and failure to switch globin chain synthesis at the appropriate age. This review focuses on the clinical features, diagnosis and management strategies of the alpha and beta thalassemias, the sickling disorders and touches on a few rarer hemoglobinopathies. It also emphasizes prevention strategies and chronic transfusion safety in countries like India where there are limited resources.

case of sickle cell hemoglobin D disease-two years follow-up

Sickle cell Hb D disease is a rare disorder presenting clinically as a mild to severe sickle cell anemia. A case of a two-and-a-half-years old female child is reported here who presented with severe sickle cell disease. Patient's father carried sickle cell trait [AS] and mother an Hb D trait [AD]. She was diagnosed by Hb electrophoresis, sickling and solubility tests as well as family studies. The patient has been followed-up for two years. A two-and-a-half-years old female child presented in November, 1998, with syndrome characterized by painful swelling of hands and feet. She also gave one year history of frequent attacks of severe bone pain in legs, feet and hands. Four weeks earlier she had been admitted in a tertiary care hospital with acute respiratory tract infection, swelling and painful extremities. She was treated with antibiotics and blood transfusion as well as investigated for juvenile rheumatoid arthritis. Rheumatoid factor and anti DNA antibodies were found negative. Her parents are second degree relatives. One younger male sibling is asymptomatic. Physical examination revealed tenderness of the extremities and mild hepatosplenomegaly. Her complete blood counts showed moderate anemia [Hb 8.4 g/dl], high leucocyte count [14.0 x 109/l] and reticulocytosis of 20%. The ESR was 4 mm fall after 1 hour. Peripheral smear showed marked anisopoikilocytosis, hypochromia, microcytosis, few macrocytes, microspherocytes, irregularly contracted cells, few target cells, occasional nucleated red cell and numerous sickle cells. Hb electrophoresis showed a single band in the region of Hb S. Hb F was 4%. The sickling and Hb solubility test for hemoglobin S were positive. The differential diagnosis at this stage was between Hb SS and Hb SD as both Hb S and Hb D have similar mobility at alkaline pH and both are present in our population. Since facility for separation of Hb S from Hb D like citrate-agar gel electrophoresis at acid pH was not present, family studies were carried out to reach at a diagnosis. Cellulose-acetate electrophoresis of both the parents showed heterogenous bands of Hb A and a band in the region of Hb S/D. Sickling test was positive in the father while it was negative in mother. The patient had inherited Hb S from father and Hb D from mother. So a final diagnosis of sickle cell Hb D disease was made. Since her diagnosis the patient had been having similar attacks of bone pain and repeated respiratory tract infection. She had six hospital admissions over the past two years due to infections [thrice], vaso-occlusive crises in the form of severe bone pain [twice] and hemolytic crises [once]. Her Hb ranged from 7-10 g/dl; blood transfusions were required thrice during this period. Renal functions were normal. Spleen had regressed and was no longer palpable; liver was palpable 5 cm below right costal margin. The body growth was normal. The patient was put on prophylactic antibiotics

Haemoglobin s Oman trait: a sickling variant

A nine-year old boy with Haemoglobin S Oman trait, a sickling variant, is presented. The laboratory haematological findings are elaborated, diagnostic markers high lighted, family studies documented and increased pathogenicity of this variant depending upon the percentage of Haemoglobin S Oman is stressed

Sonographic assessment of spleen size in Saudi patients with sickle cell disease

In patients with SCD, the spleen commonly enlarges during the first two decades of life but then undergoes autosplenectomy due to repeated attacks of vaso-occlusion and infarction. This, however, is not the case in Saudi patients with SCD, where splenomegaly sometimes persists into adult life. Ultrasonography was used to evaluate spleen size in 363 Saudi patients with SCD [340 SCD and 23 sickle BETA-thalassemia]. A total of 363 patients were evaluated. Their ages ranged from 1-60 years [mean 16 years]. Only 24 [6.6%] of our patients had autosplenectomy. The splenic index increased with age until about 40 years of age and then gradually decreased, indicating persistence of splenomegaly in our patients into an older age group. Forty-three patients [11.8%] had marked-massive splenomegaly [splenic index >120 cm[2]] and these had higher HbF levels [mean HbF=22.2%] when compared with those who had autosplenectomy [mean HbF=14.6]. This is significant [P-value=0.0169] and confirms the effect of FbF on persistence of splenomegaly in SCD patients. Ultrasonography is a simple, safe and accurate method of assessing splenic size in patients with sickle cell disease. Patients with persistent splenomegaly should be followed closely for development of complications which may necessitate splenectomy

Clinical profile of sickle cell disease in Orissa.

Children comprised 52% of patients with Sickle Cell Disease (SCD). Types of Sickle Cell Disease encountered were SS (92.7%). SB thalassaemia (6.7%) and SD disease (0.7%). The disease was widespread in almost all castes and communities in the society; largest number of patients (20%) belonging to scheduled castes and only 1.4% were from scheduled tribes. Maximum number of cases were in the age group 2-4 and 4-6 years, many of whom died around this age. Besides attacks of pain, jaundice and anemia, frequent attacks of fever with anemia or only anemia in childhood were a predominant presenting feature. Splenic sequestration was frequent (10.1%). The patients usually had a steady state hemoglobin level of 6-10 g/dl, with which they thrived well. Fetal hemoglobin was 5-30%. Blood transfusion was not a frequent requirement, but prophylactic long acting penicillin was helpful in preventing frequency of crisis.

Fetal outcome and childhood mortality in offspring of mothers with sickle cell trait and disease.

The sickle cell hemoglobinopathy is a major public health problem which causes high morbidity and mortality in India. Although the hematological and clinical profile of the patients is extensively studies. The reproductive outcome of mothers afflicted with sickle cell trait and disease is still unknown in India. In a retrospective study, we have examined the reproductive profile of 190 mothers afflicted with sickle cell, attending Medical Out-Patient Department at V.S.S. Medical College Hospital, Burla in Western Orissa, India during the year 1991-1992. Seventy-three mothers who were found normal after medical examination and were free from hemoglobinopathic disorders, anemia, jaundice, iron deficiency, etc. constituted the control group and 66 mothers with sickle cell trait and 51 with sickle cell disease formed the study group. The reproductive history was recorded for number of conceptions, fate of offspring, live birth, surviving children and childhood mortality. Hematological investigations and hemoglobin electrophoresis were done as per the standard procedure. There was no difference in mean number of livebirths per mother between controls and sickle cell trait mothers. But between the controls and sickle cell homozygotes (p < 0.01), and sickle cell trait and disease (p < 0.01) mothers, this mean number was significant. For abortions/miscarriages, the difference between controls and sickle cell homozygotes (p < 0.001), and sickle cell trait and disease (p < 0.01) mothers was highly significant. The number of stillbirths per mother in homozygous sickle cell mothers was higher (p < 0.01) as compared to controls. There were significantly higher childhood deaths in sickle cell trait (p < 0.05) and disease (p < 0.05) mothers than in the controls. It seems that the sickle cell heterozygote and hemoglobin E heterozygote mothers are genetically better fit than the sickle cell homozygotes. Further, the sickle cell disease is clinically severer than the hemoglobin E disease in India probably due to molecular diversity.

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