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1.
West Indian med. j ; 48(4): 221-2, Dec. 1999. tab
Artigo em Inglês | MedCarib | ID: med-1567

RESUMO

Despite the extensive data on haemoglobinopathies and their widespread geographic distribution, the number of prospective Caribbean studies which document the prevalence of haemoglobinopathies from birth are few. The purpose of this cohort study was to document the prevalence of haemoglobinopathies in newborn infants in Barbados. One thousand successively collected cord bloods of newborn infants were screened for haemoglobinopathies using the Paragon acid electrophoresis technique. Seventeen infants were retested at 1 year of age to confirm the diagnosis. Three mothers could not be located so their infants' diagnoses could not be confirmed. From the 997 blood samples with conclusive results, a haemoglobinopathy was found in 72 (7 percent) samples. Laboratory analysis revealed: 925 patients (93 percent) with Hb AA, 41 (4 percent) with Hb AS, 27 (2.7 percent) with Hb AC, 2 (0.2 percent) with Hb SS, 1 (0.1 percent) with Hb CC and 1 (0.1 percent) with Hb SC. The prevalence of sickle gene and number of cases of Sickle Cell anaemia in the Barbadian population is less than has been reported from other regional territories.(AU)


Assuntos
Hemoglobinopatias/epidemiologia , Barbados/epidemiologia , Eletroforese , Sangue Fetal/química , Estudos Prospectivos , Prevalência , Hemoglobinas/análise
2.
In. United Medical and Dental Schools of Guy's & St. Thomas' Hospitals; King's College School of Medicine & Dentistry of King's College, London; University of the West Indies. Center for Caribbean Medicine. Research day and poster display. s.l, s.n, Jun. 30, 1997. p.1.
Não convencional em Inglês | MedCarib | ID: med-790

RESUMO

INTRODUCTION: Neonatal screening for sickle cell disorders has been shown to reduce mortality and morbidity. Methods of screening vary but in 1994, the local Health Authority funded universal neonatal screening across the whole of Lambeth, Southwark and Lewisham. This paper will report the findings of the first three years of operation of the programme and compare findings with the screening programme currently operating in Jamaica. METHOD: since May 1994 dried bloo[d] spots of all infants have been screened at King's College Hospital and screen positive cases followed up by counsellors. Infants are followed up at four sites (Guy's, King's, Lewisham and St.Thomas') according to parental preference. Minimum standards for follow-ups have been agreed by clinicians across all four sites and information of the success in achieving these standards is now being collected. RESULTS: Overall there have been 122 affected infants detected in the first two years 10 months of the programmes operation. This is made up of 83 HbSS, 35 HbSC, 4HbSBThal. This gives a birth preference of 23.4 per 1000 total population (2.3HbSS, 1.0 HbSC). Allowing for a termination rate of 20 percent this indicates that the expected birth prevalence in the district would be 4.2 per 1000 births. This compares with birth prevalence of of 0.3 per 1000 for congenital hypothyroidism, 06. per 1000 for cystic fibrosis and 0.1 for phenylketonuria. The distribution of the births is unevem with 57 in Southwark, 40 in Lambeth and 25 in Lewisham. The paper will report on the follow-up and outcome of care provided for this population to date. Discussion: South East London has the highest prevalence of sickle cell disorders of any district in the UK. Sickle cell disorder is now as common in South East London as it is in Jamaica. The follow-up arrangements established in South East London provide an opportunity for colloboration with the West Indies which may help to determine some of the reasons for differences in the natural course of the disease in these populations. The population based approach established should allow monitoring of the impact of community education and antenatal screening programmes on the birth prevalence over time. (AU)


Assuntos
Lactente , Recém-Nascido , Estudo Comparativo , Anemia Falciforme , Triagem Neonatal/métodos , Hemoglobinopatias , Anemia Neonatal , Londres , Jamaica
3.
In. United Medical and Dental Schools of Guy's & St. Thomas' Hospitals; King's College School of Medicine & Dentistry of King's College, London; University of the West Indies. Center for Caribbean Medicine. Research day and poster display. s.l, s.n, Jun. 30, 1997. p.1.
Não convencional em Inglês | MedCarib | ID: med-791

RESUMO

An antenatal screening programme for haemoglobinopathies aims to allow couples to make informed choices about reproductive options. Screening must be carried out early in pregnancy and must be supported with accurate information and a genetic counselling service. An audit in 1990 at St. Thomas' found that couples were referred for genetic counselling late in pregnancy or not at all. The aim of the study was to icrease the uptake of screening and counselling in the antenatal clinic by improving midwives knowledge of the condition and available counselling services. A research worker was employed to evaluate the intervention. METHODS: Knowledge of haemoglobionpathies, genetic risk and available services was assessed by means of a questionnaire. An audit of ante-natal screening was undertaken before and after the introduction of specific guidelines and a porforma by reviewing over 1400 antenatal notes of those recieving community or shared care. Laboratory data on the number of tests requested for both the women and their partners was obtained for the year of the first audit. RESULTS: 23/44 midwives completed the questionnaire (65 percent). Analysis of the responses indicated that hospital midwives were better informed on every question. There was a significant difference (p<<0.001 in the proportion of questions answered correctly by hospital midwives compared to community midwives (77 percent of 45 percent, 95 percent CI 17-45 percent). (AU)


Assuntos
Gravidez , Feminino , Humanos , Cuidado Pré-Natal , Hemoglobinopatias , Atenção Primária à Saúde , Serviços de Saúde Comunitária
4.
In. United Medical and Dental Schools of Guy's & St. Thomas' Hospitals; King's College School of Medicine & Dentistry of King's College, London; University of the West Indies. Center for Caribbean Medicine. Research day and poster display. s.l, s.n, Jun. 30, 1997. p.1.
Não convencional em Inglês | MedCarib | ID: med-794

RESUMO

We have conducted screening programmes at King's College Hospital for the assessment of the ocular manifestations of sickle cell disease in adults as well as in children. We have followed the same protocol used in the cohort study carried out in Jamaica. Fundus flourescein angiograms were performed on patients over the age of five. Our findings were compared to those of the Jamaican cohort. The studies were agreed by the Medical ethical committee at King's College Hospital. Some of the results have already been published. We have also documented some cases of retionopathy in patiens with AS and AC haemoglobinopathy. The eye is an invaluable window that provides an opportunity to assess the presence and progression of small vessel disease. The ocular manifestations of sickle cell haemoglobinopathies provide useful clues to the understanding of this condition. I propose to present a summary of our results so far. This study was supported by the locally organized research scheme and was conducted in association with Professor Alastair Bellingham and Dr. Arya from the Haemotology department at King's College Hospital and Professor A C Bird from Moorfields eye Hospital.(AU)


Assuntos
Criança , Humanos , Estudo Comparativo , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Hemoglobinopatias , Olho , Fluorofotometria , Inglaterra , Jamaica
6.
WEST INDIAN MED. J ; 46(suppl. 2): 44, Apr. 1997.
Artigo em Inglês | MedCarib | ID: med-2445

RESUMO

The incidence of the sickle-cell and other haematoglobinopathies in a population has been shown to be significantly related to its racial ethnic composition. Despite the extensive documentation of cases and their widespread geographic distribution, the number of prospective studies which documents the incidence of this disease from birth, is few within the Caribbean. The purpose of this cohort study was to document the incidence of haemoglobinopathies in Barbados from birth, and to follow the outcome of infants affected by sickle-cell anaemia over the first five years of life. The hypothesis for the study is that if there is an incidence of sickle-cell disease similar to that in Jamaica, or among blacks in the USA, affected patients die soon after birth or have mild haplotypes; alternately that there is a lower incidence, with or without "mild" haplotypes. One thousand successively collected cord bloods of newborn infants were screened for haemoglobinopathies by using the Paragon acid electrophoresis technique. Seventeen infants were recalled for repeat electrophoresis at one year of age and three mothers could not be located. Of the 997 specimens with conclusive results, a haemoglobinopathy trait was found in 71 (7 percent ). Nine hundred and twenty five patients (93 percent) had Hb AA, 41(4 percent) Hb AS, 27 (2.7 percent) Hb AC, one (0.1 percent) Hb CC, two (0.2 percent) Hb SS and one (0.1 percent) Hb SC. We conclude from then study so far that the incidence of the sickle-cell gene in the Barbadian population is low in comparison with that found in Jamaica. (AU)


Assuntos
Humanos , Recém-Nascido , Hemoglobinopatias/diagnóstico , Anemia Falciforme/diagnóstico , Barbados , Jamaica
7.
Kingston; s.n; 1997. 58 p. ilus, maps, tab.
Tese em Inglês | MedCarib | ID: med-1151

RESUMO

The haematology laboratory can be regarded as playing a pivotal role in the delivery of quality health care. Accuracy and early detection of many genetically transmitted diseases hinge on the reliability of screening tests, their interpretation and the liaison betweem nurse/clinician, the laboratory and their clientele. This project evaluated the laboratory services offered for screening haemoglobinopathies among persons attending the antenatal clinic of the University Hospital of the West Indies, Kingston, Jamaica. A case control study was conducted during the months December 1996 through July 1997 by means of accessing laboratory records, patients' dockets and the administering of questionnaires to mothers with the haemoglobinopathies (cases) and those without, (controls). Findings analysed from the dockets and questionnaires reveal that the antenatal clinic accounts for approximately one third of the requests made to the laboratory by the hospital for haemoglobin electrophoresis. The relative frequencies of haemoglobinopathies with that of other studies AS 10 percent; AC 3 percent; SS < or = 1 percent; SC < or = 1 percent. The screening test used was fairly reliable for preliminary screening but needs to be followed by diagnostic tests which are not being done at this time, for confirmation of genotypes. Both groups were similar in age distribution but differed in respect of knowledge of sickle cell status of self, family members and sickle cell disease. Among the case group greater than 60 percent of the times they did not know their husbands'/partners's sickle status or that of his family members. Only 82 percent of respondents knew their correct sickle status (74 percent of cases; and 90 percent of the controls). The study groups differed with regard to educational level, race of fathers and union status. More subjects with a haemoglobinopathy than those in the control group attained college and university level and this may be responsible for the impact on level of awareness. Race of both groups were similar except that fathers in the case group were significantly less likely to be black when compared to the control group. Women in the control group were more likely to be married or in common-law union than those in the case group. Plans for having children were similar in both groups and showed the "high-risk" women either had no regard for, or are ignorant of the implication for transmitting the sickle cell gene.(Au)


Assuntos
Adulto , Pessoa de Meia-Idade , Feminino , Humanos , Gravidez , Adolescente , Hemoglobinopatias/sangue , Traço Falciforme/sangue , Técnicas de Laboratório Clínico/normas , Jamaica/etnologia , Estudos de Casos e Controles , Inquéritos e Questionários
8.
West Indian med. j ; 41(Suppl. 1): 26, Apr. 1992.
Artigo em Inglês | MedCarib | ID: med-6466

RESUMO

A high-performance liquid chromatography (HPLC) method for the screening of haemoglobins in cord blood was evaluated and the gene frequencies of the structural haemoglobin variants HbS and HbC and the synthesis variants O- and á+ -thalassaemia were studied in babies born on the Caribbean island of Curacao, the Netherlands Antilles. In 3 months, 67.2 percent of all (748) newborns were screened and 122 (24.3 percent) had an abnormal haemoglobin pattern, of which 53 (43.4 percent) had a haemoglobinopathy (HbS or HbC), 64(52.2 percent) O-thalassaemia (Hb Barts > 0.5 percent, corresponding with heterozygous or homozygous O-thalassaemia-2) and 5 (4.1 percent) a haemoglobinopathy plus O-thalassaemia. None of the newborns with heterozygous HbS and HbC had concomitant á+-thalassaemia. The population genotype frequency of heterozygous O-thalassaemia -2 remain undetected. The data are in excellent agreement with comparable published results. The HPLC method proved pre-eminently suitable for the screening of cord blood samples. (AU)


Assuntos
Recém-Nascido , Humanos , Sangue Fetal , Hemoglobinopatias/sangue , Talassemia/sangue , Cromatografia Líquida de Alta Pressão , Antilhas Holandesas , Triagem Neonatal/métodos
9.
West Indian med. j ; 37(1): 36-40, Mar. 1988.
Artigo em Inglês | MedCarib | ID: med-11725

RESUMO

We compare the relative validity of HbA1c and fructosamine as indices of long-term blood glucose levels in populations with a common occurence of haemoglobinopathies. In these patients, HbA1c levels are lower than HbA1c levels in non-haemoglobinopathy patients and do not reflect the gludicic status of the patient, unlike the fructosamine assay. This last test has a good potential to be used a a mass screening for diabetes mellitus in these populations (Africa, Caribbean, USA) in either homozygous or heterozygous haemoglobinopathy patients. Moreover, fructosamine presents numerous technical advantages which facilitates the screening (AU)


Assuntos
Humanos , Diabetes Mellitus/diagnóstico , Hemoglobina A Glicada/análise , Hemoglobinopatias/sangue , Diabetes Mellitus/sangue , /sangue , Índias Ocidentais
10.
West Indian med. j ; 35(Suppl): 35, April 1986.
Artigo em Inglês | MedCarib | ID: med-5948

RESUMO

A prospective study of 1,254 cord blood samples was carried out from the 9th July to 10th August, 1984 at the Maternity Units of the Mount Hope, Port-of-Spain, San Fernando and Scarborough Hospitals. Electrophoresis on cellulose acetate and citrate agar was performed on 1,233 and 355 of the specimens respectively. Haemoglobins A, F, S and C and Bart's, separate on cellulose acetate, while citrate agar electrophoresis enables separation of haemoglobins S from D/O and C from E. Red blood cell indices were determined on 1,192 samples on the Coulter-S counter. HbA2 levels were not available to distinguish O-thallassaemia and á-thallassawmia. The overall incidence of haemoglobinopathy was 15.7 percent Hgb S was found in 9.9 percent of Negroes and 1.0 percent of Indians; Hgb C in 3.1 percent of Negroes and 0.7 percent of Indians; Hgb E was found in 0.2 percent and 0.4 percent of Negroes and Indians respectively. A minimal estimate for the incidence of O-thalassaemia in Negroes was found to be 3.1 percent with 2.2 percent in Indians. á-thalassaemia probably affects approximately 4.2 percent of Indians, and 2.9 percent of Negroes. There were significant differences in gene frequencies among the ethnic groups. Hence a significant number of babies are born each year with pathologically important haemoglobin disorders and thalassemia syndromes. The prevalence of these disorders does not reflect the annual birth rate of these haemoglobinopathies and hence suggests that many of the affected infants succumb to complications early in childhood. It would seem probable that the haemoglobino


Assuntos
Humanos , Recém-Nascido , Hemoglobinopatias/sangue , Recém-Nascido/sangue , Trinidad e Tobago
11.
Kingston; ; 1985. x,80 p. tab.
Tese em Inglês | MedCarib | ID: med-13791

RESUMO

Whole body protein turnover and basal metabolic rate were measured in 6 patients with homozygous sickle cell disease, HbSS, and 6 normal controls. A technique using oral prime/intermittent infusion of 15N glycine as tracer, and enrichment in urinary urea and ammonia was used to measure protein turnover. The subjects received a priming dose containing 90æg15Nkg-1 followed, six hours later, by a continuous infusion at the rate of 5æg15Nkg-1 hr-1. Feeds were given intermittently along with the tracer. Plateau enrichments were mostly achieved by 9-12 hours in both ammonia and urea. Protein turnover in the sickle cell patients was 66-81 percent more than in the normals and represented an increase in synthesis and breakdown. A theoretical increase in haemoglobin turnover accounted for 20-26 percent of the increase in turnover. The average basal metabolic rate, as measured by oxygen consumption, was also significantly higher in sickle cell patients, despite subnormal nutritional status in 5 of the 6 patients. It was 7 percent (P<.05) more than in the normals and the difference was even greater when expressed in terms of body weight and muscle mass, being 22 percent, P<0.005 and 20 percent (P<.005) respectively. Protein turnover is an energy demanding process and with no other obvious cause, it seems that the process of protein turnover contributed to most of the increase in energy expenditure. With this assumption, protein turnover accounted for 40-44 percent of the energy expended in the sickle cell subjects compared to 27-32 percent in the normals. If the cost of protein turnover in normals is as much as 27-34 percent, this is further evidence that previous estimates based on the energy required for protein synthesis is significantly underestimated. The significant increase in protein turnover and energy expenditure indicates that there is a higher requirement for energy in HbSS compared to normal that could be relevant to the generalised poor growth, high susceptibility to infection, poor wound healing and the general ill health observed in the patients (AU)


Assuntos
Humanos , Adulto , Masculino , Anemia Falciforme/metabolismo , Hemoglobinopatias/metabolismo , Metabolismo Basal , Medidas, Métodos e Teorias , Nitrogênio/metabolismo , Creatinina/urina , Hemoglobinas/metabolismo , Metabolismo Energético , Jamaica
12.
Br J Ophthalmol ; 67(11): 777-8, Nov. 1983.
Artigo em Inglês | MedCarib | ID: med-14706

RESUMO

We describe for the first time retinal changes in sickle cell/hereditary persistence of fetal haemoglobin syndrome, which is a rare and benign disorder. The changes are qualitively similar to retinal disease seen with sickle haemoglobin and sickle C haemoglobin, but are mild (AU)


Assuntos
Humanos , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Masculino , Feminino , Anemia Falciforme/patologia , Hemoglobina Fetal , Hemoglobinopatias/patologia , Retina/patologia , Doenças Retinianas/patologia , Anemia Falciforme/complicações , Hemoglobinopatias/complicações , Doenças Retinianas/etiologia , Vasos Retinianos/patologia , Síndrome
13.
In. Anon. Commonwealth Cribbean Medical Research Council twenty-seventh Scientific Meeting. Kingston, s.n, 1982. p.48-9, ills.
Monografia em Inglês | MedCarib | ID: med-2525
14.
Am J Phys Anthropol ; 55: 217-21, 1981.
Artigo em Inglês | MedCarib | ID: med-9279

RESUMO

Hemoglobin characteristics were investigated in 492 blood specimens collected in a small island community (1,450 inhabitants) in the Bahamas. Using two different methods, abnormal variants were detected in 20.3 percent of the sample, including genotypes AS, AC,AF(A/HPFH), SC and SF. Biodemographic evidence suggests that the origin and distribution of the hemoglobinopathies in this population have been influenced by historical migrations and genetic drift. The opportunity for drift has been particularly heightened by the "founder effect", the maintainance of small population size, a relatively endogamous mating structure, and restricted immigration. Health survey results reveal a wide discrepancy between the actual prevalence of abnormal hemoglobins and that indicated by informant reports.


Assuntos
Humanos , Hemoglobinopatias/etnologia , Hemoglobinopatias/genética , Bahamas/epidemiologia
15.
West Indian med. j ; 29(4): 281, Dec. 1980.
Artigo em Inglês | MedCarib | ID: med-6744

RESUMO

Hepatic structure was reviewed in 107 of 141 (76 percent) autopsies performed on patients with sickle haemoglobinopathies at the University Hospital of the West Indies. Tissue was available from 58 males and 49 females with ages ranging from 0 - 72 (mean 18) years. Genotypes included 78 SS, 9 SC, 2 SB+ thalassaemia and 18 with sickle cell disease of undetermined aetiology. In contrast with 12-29 percent prevalence in necropsy studies from USA and Africa, cirrhosis was present in only 3 (3 percent). Hepatocellular necrosis was found in 17 (16 percent) but in none did this appear to be directly related to the sickle haemoglobinopathy. Iron storage usually of mild degree was present in 48 (45 percent) and appeared not to contribute to the other hepatic structural changes. Cholestasis was seen in 14 without cirrhosis (13 percent) and was unrelated to gallstone disease. The major changes were in the sinusoids, where extramedullary erythropoiesis was present in 13 (12 percent). In 99 (93 percent) congestion of the sinusoids by erythrocytes exhibiting a variable degree of sickling was seen. Sickled cells occurred as nodules in 19 (18 percent) overall, but only in those with definite (17) or probable (2) SS. Nodules which were frequently related to Kupffer cells, were also more common in males (14). In contrast, despite sepsis being the major cause of death in 58 (54 percent) with frequent disseminated infection, Kupffer cell hyperplasia was present in only 5. Similar findings have been demonstrated in percutaneous needle biopsy of the liver in 22 patients with sickle haemoglobinopathies undergoing investigations for increased icterus (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Hemoglobina Falciforme , Fígado/patologia , Hemoglobinopatias , Macrófagos do Fígado
16.
Br J Ophthalmol ; 63(12): 839-41, Dec. 1979.
Artigo em Inglês | MedCarib | ID: med-12696

RESUMO

The ocular findings in 2 patients with sickle cell-haemoglobin O Arab disease are described. One patient had proliferative sickle cell retinopathy with extensive autoinfarction of lesions. Sickle cell-haemoglobin O Arab disease must be added to the list of conditions that may be associated with proliferative sickle cell retinopathy (AU)


Assuntos
Humanos , Adolescente , Pessoa de Meia-Idade , Feminino , Hemoglobinopatias/complicações , Anemia Falciforme/complicações , Doenças Retinianas/etiologia , Transtornos da Visão/etiologia , Angiofluoresceinografia , Jamaica
17.
Br J Haematol ; 32(3): 357-64, Mar. 1976.
Artigo em Inglês | MedCarib | ID: med-13173

RESUMO

Globin synthesis was studied in four Negro families including 10 members with Hb A-HPFH and four with Hb S-HPFH. The á/O specific activity ratios in 10 of these patients with Hb A-HPFH heterozygotes were similar to those of the control group. In two patients with Hb A-HPFH, the á/O ratio was slightly decreased in one (0.84) and clearly decreased in another (0.78). In two of the patients with Hb S-HPFH the ratios were clearly decreased (0.71 and 0.75). The extended range of á/O ratios in these 14 patients is similar to that of Negro patients with á-thalassaemia trait. These studies indicate that a decreased á/O ratio may be found in HPFH, as well as in á-thalassaemia. Bone marrow globin synthesis was measured in two patients with Hb S-HPFH and decreased peripheral blood á/O ratios, and in one with Hb A-HPFH and a normal peripheral blood á/O ratio. In each patient the (á+y)/O ratio of radioactivities as well as the á/O specific activity ratio was close to I and therefore balanced, indicating more rapid decay of á-chain synthesis relative to O-chain during red cell maturation or extremely rapid destruction of newly synthesized excess O-chains in the bone marrow.(Summary)


Assuntos
Hemoglobina Fetal/biossíntese , Globinas/biossíntese , Hemoglobinopatias/genética , Hemoglobina Falciforme , Jamaica , Linhagem , Estados Unidos
18.
In. Cruickshank, Robert; Standard, Kenneth L; Russell, Hugh B. L. Epidemiology and community health in warm climate countries. Edinburgh, Churchill Livingstone, 1976. p.384-405.
Monografia em Inglês | MedCarib | ID: med-10173
20.
West Indian med. j ; 22(4): 201, Dec. 1973.
Artigo em Inglês | MedCarib | ID: med-6194

RESUMO

A prospective study is in progress in order to determine the relationship of viral hepatitis to significant liver disease in patients with sickle cell anaemia and related haemoglobinopathies. Two groups of patients are being studied: 1. Patients selected at random from the Sickle Cell Clinic of the University Hospital of the West Indies - These have blood taken for liver function tests and detection of Australia antigen. 2. Patients with sickle cell disease and cholestatic jaundice - these are hospitalized, and have liver biopsies in addition to routine investigations. In none of 106 patients selected from the Sickle cell Clinic, did liver function test reveal evidence of significant liver disease, but three patients had Antigenaemia. The livers of these patients were biopsied, and the appearances on light microscopy were compatible with a form of viral hepatitis in two of them. Two patients have been seen with cholestatic jaundice. One had initial biopsy evidence of acute viral hepatitis without antigenaemia, but showed the picture of chronic persistent hepatitis on follow-up biopsy. The other had initial biopsy evidence of chronic aggressive hepatitis with antigenamia, a repeat biopsy five months later was inadequate for proper histological assessment. These preliminary results suggest that viral hepatitis may play an important role in significant liver disease occasionally seen in patients with sickle cell anaemia and related haemoglobinopathies (AU)


Assuntos
Humanos , Hemoglobinopatias/complicações , Anemia Falciforme/complicações , Hepatopatias/complicações
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