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.

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

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.

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