Retinopathy in patient with AC hemoglobinopathy / Retinopatia em pacientes com hemoglobinopatia AC

Abstract Hemoglobin C is the second most frequent Hb variant in Brazil and the world. Hemoglobin C trait is described as a benign and asymptomatic condition. There is little information in the literature about the association of retinal vascular disease and the presence of hemoglobin AC, being this information restricted to a few case reports. This case report describes a 26-year-old female patient with hemoglobin C trait. She presents areas of non-perfusion and arteriovenous shunts in the retinal temporal periphery of the left eye, like changes in Goldberg's stage II of proliferative sickle retinopathy. After three years of follow-up, the patient exhibits the same the alteration in right eye as well.

Resumo A hemoglobina C é a segunda variante de hemoglobina mais comum no Brasil e no mundo. O traço C é descrito como uma condição benigna e assintomática. Há pouca informação na literatura sobre a associação de doença vascular retiniana e a presença de hemoglobina AC, sendo esta informação restrita a alguns poucos relatos de casos. Este relato de caso descreve uma paciente do gênero feminino de 26 anos de idade com traço C. Ela apresenta áreas de não perfusão e shunts artério-venosos na periferia temporal da retina do olho esquerdo, similar ao estágio II de Goldberg de retinopatia proliferativa falciforme. Após três anos de acompanhamento, a paciente apresentou a mesma alteração também em olho direito.

Prevalence of orofacial alterations in sickle cell disease: a review of literature

AIM: To evaluate the manifestations of sickle cell disease on the orofacial complex through a review of current literature concerning prevalence of dental caries, periodontal disease, temporomandibular joint disorders and radiographic alterations of maxillofacial bones. METHODS: Full-text papers retrieved from MEDLINE and LILACS electronic databases were critically reviewed. RESULTS: Alterations of maxillofacial bones are well documented in the literature, but studies reporting caries, periodontal condition and temporomandibular joint alterations in are scarce and inconclusive. CONCLUSION: Further well-designed epidemiological studies are needed to indicate the real impact of this disease on the stomatognathic health, collaborating to improve public health policies.

Childhood haemoglobinopathies in Benghazi

To determine the epidemiological pattern of haemoglobinopathies in Benghazi through the Children's Hospital in Benghazi as well as geographical distribution of cases. The information was initially collected retrospectively through the haematology clinic records, and then refined from the patients during their visit in the last 5 months. A total of 78 files of haemoglobinopathies, represented [18.1%] the total cases in the clinic. Sickle cell anaemia [74%], sickle cell trait [17%] haemoglobin C+S [6%], haemoglobin C trait [3%]. Consanguinity in 61% of the families. Their age at evaluation ranged from 6 months to 26 years with a mean of 10.84+6.75. mean of haemoglobin 7.5+2. Male to female ratio 1:1.4. For each patient: the number of admissions ranged from 1-10 times with a mean of 2.6, and the frequency of blood transfusions ranged from 0-10 times. cholelithiasis [4.8%], stroke [hemiplegia] 6[9.5%], hepatitis B and C [9.5%], HIV [3.1%], hypersplenism [6.3%], acute chest syndrome [6.3%]. One patient died from overwhelming sepsis [post splenectomy]. Almost all the cases were originally from the southern areas, dark skinned, poor school performance. Symptomatic cases were registered, with a high non-compliance, and higher percentage of consanguinity. A national programme for the control of the disease by reducing carrier marriage is needed

Hemoglobinas anormales en la población neonatal de Costa Rica

Abnormal haemoglobins in the newborn human population of Costa Rica. Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903) from throughout Costa Rica (October 2005-October 2006) were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease) and one shows the double heterozygous genotype SC. in this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening Program, together with a interdisciplinary National Program of Education for the disease and carrier status (AS/AC) for patients, families and medicar personnel. This is the basis for proper genetic counseling, to improve treatment and to reduce morbi-mortality. Rev. Biol. Trop. 56 (3): 995-1001. Epub 2008 September 30.

Se han analizado un total de 70 943 muestras de sangre total en papel filtro S&S 903 de neonatos de Costa Rica (octubre 2005 a Octubre 2006) con el fin de detectar variantes de hemoglobina mediante la técnica de isoelectroenfoque. Se detectaron 891 casos con alguna variante para una frecuencia de 1/79. Se clasifican 5 casos homocigotos para hemoglobina S (anemia drepanocítica o anemia falciforme) y un caso doble heterocigoto para SC. En este estudio se demuestra que las variantes fenotípicas de hemoglobina S como la C, se encuentran distribuidas por todo el país con algunas diferencias locales, razón por la cual es importante que la prevención de nuevos casos se realicé a través de nuestro Programa Nacional de Tamizaje de Hemoglobinas junto con un Programa Nacional interdisciplinario de Educación para el portador del rasgo (AS/AC) como, para el enfermo y su familia; al igual que la instauración de programas dirigidos a médicos generales y enfermeras en todas las regiones de salud del país, para asegurar consejo genético a portadores y enfermos, y a la vez, mejorar los sistemas de tratamiento a los pacientes para reducir la morbi -mortalidad.

Heterozigose para hemoglobinopatias em doadores de sangue do Centro de Hemoterapia de Sergipe / Heterozigosity to hemoglobinopathies in blood donors from the Hemotherapy Center in Sergipe, NE-Brazil

As hemoglobinopatias, distúrbios geneticamente determinados da hemoglobina (Hb) humana, estão presentes com freqüência elevada em várias partes do mundo, sendo que no Brasil as Hb anormais S e C são as mais prevalentes. Com o objetivo de identificar a presença de portadores saudáveis de genes para hemoglobinopatias entre doadores de sangue do Centro de Hemoterapia do Estado de Sergipe (Hemose), foram analisadas 1.345 amostras de doadores de sangue. Em todas as amostras foram realizados eritrograma automatizado e eletroforese de hemoglobina em acetato de celulose utilizando-se tampão Tris-EDTA-Borato pH 8,6. As amostras que apresentaram hemoglobinas anormais foram submetidas a teste de falcização, teste de solubilidade e Cromatografia Líquida de Alta Performance (HPLC). Foram identificadas 76 amostras com hemoglobinas anormais (5,6 por cento), das quais 55 (4,1 por cento) com traço falciforme (Hb AS), 19 (1,4 por cento) com Hb AC, uma com Hb AD e outra sugestiva de beta-talassemia. Os resultados encontrados demonstram a necessidade de implantação da triagem para hemoglobinopatias entre doadores de sangue, pois desta maneira o receptor de sangue é beneficiado com produto de melhor qualidade, e o doador com a identificação de uma alteração genética que pode vir a se manifestar em seus descendentes.

Hemoglobinopathies are genetically determined disorders that present in significant high frequencies in certain parts of the world. Despite of the existence of hundreds of known hereditary hemoglobinopathies, Brazilian studies have demonstrated that abnormal hemoglobins S and C are the most prevalent. With the objective of identifying the profile of hemoglobinopathies of blood donors at the Hemotherapy Center in the State of Sergipe (Hemose), 1345 samples of blood were analyzed. Initially automatic blood testing and electrophoreses in cellulose acetate using a Tris-EDTA-Borate buffer at pH 8.6 were carried out for all samples. Samples that presented with abnormal hemoglobins were submitted to testing for the sickle cell trait, solubility test and by High Performance Liquid Chromatography. Seventy-six samples (5.6 percent) with abnormal hemoglobins were identified, 55 (4.1 percent) of which had the sickle cell trait (Hb AS), 19 (1.4 percent) had Hb AC, 1 (0.1 percent) had Hb AD and 1 (0.1 percent) was suggestive for beta- thalassaemia. The results demonstrate a necessity for the implantation of screening of hemoglobinopathies in blood donors, so that blood recipients benefit from good quality blood and donors from the diagnoses of genetic alterations that may be prevented in descendants.

Incidence of haemoglobinopathies detected through neonatal screening in the United Arab Emirates

In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates [UAE] in 3 districts of Abu Dhabi emirate. This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% [0.07% for UAE citizens and 0.02% for non-UAE citizens]. The incidence of sickle cell trait was 1.1% overall [1.5% for UAE citizens and 0.8% for non-UAE citizens]. Universal neonatal screening for sickle cell haemoglobin at the national level should be considered

Efeitos cardiovasculares da anemia / Cardiovascular effects of anemia

A anemia está freqüentemente associada à insuficiência cardíaca congestiva. Sua presença determina piora dos sintomas e das funções cardíaca e renal, além do aumento da mortalidade. Este artigo apresenta uma revisão dos principais fatores causadores da anemia associada à insuficiência cardíaca e também discute as alterações da anemia crônica comparada a formas mais graves, como a anemia falciforme.

Frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Basra

Basra, southern Iraq, was mapped for haemoglobinopathies and glucose-6-phosphate dehydrogenase [G6PD] deficiency. Of 1064 couples aged 14-60 years recruited from the Public Health Laboratory, 49 had beta-thalassaemia trait, 69 had sickle-cell trait, 2 had haemoglobin D trait, 2 had haemoglobin C trait and 1 had high persistent fetal haemoglobin. Carriers of major beta-globin disorders comprised 11.48%. G6PD deficiency was detected in 133 individuals [12.5%]. Only 10 couples [0.94%] were at risk of having children affected with either sickle-cell disease or beta-thalassaemia major. These defects constitute a real health problem and necessitate a management plan and public health education for early diagnosis and therapy

Student screening for inherited blood disorders in Bahrain

In Bahrain and neighbouring countries inherited disorders of haemoglobin, i.e. sickle-cell disease, thalassaemias and glucose-6-phosphate dehydrogenase [G6PD] deficiency, are common. As part of the National Student Screening Project to determine the prevalence of genetic blood disorders and raise awareness among young Bahrainis, we screened 11th-grade students from 38 schools [5685 students], organized lectures and distributed information about these disorders. Haemoglobin electrophoresis, high performance liquid chromatography, blood grouping and G6PD deficiency testing were performed. Prevalences were: 1.2% sickle-cell disease; 13.8% sickle-cell trait; 0.09% beta-thalassaemia; 2.9% beta-thalassaemia trait; 23.2% G6PD deficiency; 1.9% G6PD deficiency carrier. Health education, carrier screening and premarital counselling remain the best ways to reduce disease incidence with potentially significant financial savings and social and health benefits

Hemoglobinopathies among five major ethnic groups in Karachi, Pakistan.

A brief survey of abnormal hemoglobin variants among the major ethnic groups of Karachi was conducted; 202,600 subjects were studied. Patients with low hemoglobin (Hb), low mean cell volume (MCV) and mean cell hemoglobin (MCH) including anemia, microcytosis, hypochromic hemolysis and target cells, were refered for the identification of hemoglobinopathy by molecular methods. Population screening showed that 60% had iron-deficiency anemia and 40% had hemolytic anemia, of which 20.6% was due to beta-thalassemia major, 13% beta-thalassemia trait, 5.1% sickle cell disease, 0.76% hemoglobin D Punjab (HbD Punjab), 0.32% hemoglobin C (HbC), and 0.22% hereditary persistence of fetal hemoglobin (HPFH).

Inferferência da malária na fisiologia e na fiosiopatologia do eritrócito: parte 3: relaçäo com deficiência de G6PD, talassemias e outros aspectos hereditários do eritrócito / Malaria interference of physiologic and physiopathology of erythrocyte: part 3: relation of G6PD deficiency, thalassemis and other hereditary aspects of erythrocyte

Os autores enfocam os aspectos fisiológicos e fisiopatológicos do eritrócito que se relacionam com a malária. Esta revisäo visa compreender a açäo seletiva da malária sobre as doenças hereditárias do glóbulo vermelho (anemia falciforme e hemoglobinopatias associadas, talassemias, deficiência de glicose-6-fosfato desidrogenase, ovalocitose hereditária) e do sistema Duffy, focalizando a discussäo nos aspectos associados ao ciclo evolutivo do parasita no inseto e no homem. Descrevem a fisiopatologia da deficiência de G6PD, talassemias, hemoglobinopatias C e E ovalocitose, sistema Duffy e as inter-relações com a malária

Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil / Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil

This study was conducted to establish the frequency of hemoglobinopathies among newborns undergoing screening tests for metabolic diseases at the University Hospital (Hospital de ClÝnicas) in Porto Alegre, Rio Grande do Sul, Brazil. Testing for abnormal hemoglobins was performed by isoelectric focusing electrophoresis on agarose gel with blood obtained by heel stick and applied to filter paper. For confirmatory testing of abnormal neonatal screening, a venopuncture blood sample was obtained from the infant and parents and then submitted to hemoglobin electrophoresis on cellulose acetate at pH 8.6 and citrate agar at pH 6.2. A total of 1,615 subjects were studied: 20 samples showed the Hb S pattern and six samples showed Hb C. Thus, frequency of the sickle cell gene was 1.2 and that of the Hb C gene was 0.4, regardless of race or origin. These data suggest that the inclusion of universal neonatal screening for hemoglobinopathies in the ongoing projects for the detection of phenylketonuria and congenital hypothyroidism has many advantages and should be considered in health programs.

In vivo and in vitro demonstration of hemoglobin C crystals in non-splenectomized patients

We studied 12 Hb C carriers: 4 homozygotic Hb CC and 8 heterozygotic. We observed the presence of free crystals in the peripheral blood of the homozygotes but in none of the heterozygotes. However, after incubation with 3 percent NaCl we were able to detect crystals in the heterozygotes (Hb AC and Hb SC), and in the homozygotes (Hb CC). In patient 04 (P04) less crystals formation occurred due to inhibition of the process by the presence of elevated levels of Hb F (12.2 percent). All the homozygotic patients had a splenomegaly of 3 to 6 fingerbreadths.We believe that the spleen wears off with time, thus allowing the passage of crystals to the peripheral blood. This finding might be associated with splenic insufficiency without a reduction of its dimensions. Finally, the finding of crystals in the peripheral blood permitted the diagnosis of Hb C obviating the need for electrophoresis

Programa comunitário de hemaglobinopatias hereditárias em populaçäo estudantil brasileira / Public health programs hereditary hemoglobinopathies on high school students in Brazil

Foram testadas a viabilidade e a eficiência de um programa comunitário de investigaçäo em hemoglobinopatias, focalizando estudantes de primeiro e segundo graus, de Bragança Paulista, Estado de Säo Paulo, (Brasil). A triagem das hemoglobinopatias foi oferecida em caráter opcional, sendo realizada pela eletroforese de hemoglobinas e exames hematológicos complementares. Em um período de 24 meses foram examinadas 1.,118 estudantes e 53 parentes dos mesmos, em um total de 1.171 pessoas. Foram diagnosticados 47 indivíduos com alteraçöes hereditárias da hemoglobina (4,0 por cento da amostra examinada). A comunidade de estudantes mostrou razoável receptividade ao programa, com índice geral de aceitaçäo à realizaçäo dos exames laboratoriais de 55,4 por cento. A investigaçäo despertou o interesse da comunidade, levando à implantaçäo de um serviço especializado de diagnóstico, orientaçäo e tratamento de hemoglobinopatias hereditárias na cidade onde a pesquisa foi realizada

Estudio de la frecuencia de hemoglobinopatías en las islas de San Andrés y Providencia, Colombia / Study of the frequency of hemoglobinopathies in the Colombian Caribbean Islands

Se realizó un estudio destinado a determinar la frecuencia de hemoglobinopatías en las islas caribeñas de San Andrés y Providencia, en 544 individuos: 443 de San Andrés y 101 de Providencia. La frecuencia en San Andrés fue del 12,8 por ciento y en Providencia 20,8 por ciento; las hemoglobinopatías más frecuentes fueron: el rasgo falciforme, la hemoglobina C y la beta-talasemia. Los datos indican, que las hemoglobinopatías en esta región del país como problema de salud pública, tienen importancia y nos dan información sobre el origen geográfico de la población

Genetics and public health: response of a brazilian population to an optional hemoglobinopathy program

The efficiency and viability of a hemoglobinopathy program was investigated. The program was offered on a voluntary basis to a Brazilian community (Araras, SP) and started with the blood analyses of pregnant women. A total of 2209 pregnant women were screened in the first 39 months and 80 heterozygotes were diagnosed (52 AS, 19 AT and 9 AC). Another 1003 persons related to these heterozygotes were examined and a total of 432 heterozygotes were diagnosed (241 AS, 140 AT and 51 AC), added to 13 patients with chronic hemolytic anemia (8 SS, 3 SC, 1 TT and 1 CC) and 16 risk couples, made up of two heterozygotes. The examination percentages of pregnant women (100 per cent), newly born children (75 per cent), other children (97 per cent), husbands (56 per cent ) and other relatives (64 per cent) showed the high rate of acceptance of the program in the community. Genetic counselling was accepted by 60 per cent of the heterozygotes over 15 years of age.