RESUMO
Sickle cell trait (SCT) is a genetic abnormality affecting the synthesis of normal haemoglobin [Hb] and is the heterozygous form of sickle cell anaemia. The aim of the present study was to compare the ability to repeat maximal cycling sprints (RSA; repeated sprint ability) between SCT carriers (SCT group, n = 7) and a control group with normal haemoglobin [Hb] (n = 7). The two groups performed a 10-s maximal cycling sprint in order to determine the peak power output (P(peak10)). They then performed an RSA test that consisted of five 6-s maximal cycling sprints interspersed with 24 s of passive recovery. For each sprint, the peak power output (P(peak6)) and the work over the 6-s (W6) were calculated. The sum of each W6 developed during the test was considered to be the total work (W(tot)). The decrements over the repeated sprints for P(peak6) (P(6dec)) and W6 (W(6dec)) were also determined. We found no difference in P(peak10), W(tot) and W(6dec) between the two groups. However, the drop in P(peak6) and W6 during the RSA test appeared earlier in the SCT group and the decrease in P(peak6) over the RSA test was greater in the SCT group than in the control group (p < 0.05). In conclusion, we found that: 1) maximal anaerobic performance determined during a single sprint was not altered by SCT, but 2) repeated sprint ability was different in SCT carriers compared with sportsmen with normal Hb.
Assuntos
Ciclismo , Hemoglobina Falciforme/análise , Ácido Láctico/sangue , Resistência Física/fisiologia , Traço Falciforme/fisiopatologia , Adulto , Teste de Esforço , Humanos , Traço Falciforme/sangue , TrabalhoRESUMO
In a survey of the chromosomal background associated with the sickle cell gene in Guadeloupe, a French Caribbean island, we identified 37 unrelated patients with sickle cell disease (27 SS, nine SC, and one S-beta-thalassemia) of 477 unrelated sickle cell patients where the beta3 gene was linked to 20 different atypical haplotypes. These atypical chromosomes account for about 5% of the overall betaS chromosomes in this population. To investigate the origin of these atypical betaS haplotypes, we performed extensive typing of betaS and betaA chromosomes. Twenty-two different 5' subhaplotypes were identified among the betaS chromosomes. Fifteen of 20 different atypical haplotypes are likely to be the product of recombination by a single crossover around the <
Assuntos
Haplótipos/genética , Hemoglobina Falciforme/genética , Coleta de Dados , Variação Genética , Guadalupe/epidemiologia , Humanos , Mapeamento por RestriçãoRESUMO
We have studied haplotype of beta(S) chromosome and alpha-globin gene status in 534 patients (255 adults and 279 children of whom 159 neonates) from Guadeloupe with various sickle cell-related conditions, namely SS (n = 298), SC (n = 170), S-beta-thal (n = 56), and other rare forms (n = 10). Haplotype data on beta(S) chromosomes confirm our previous observation that Benin type is the most prevalent (75%) beta(S) chromosome in Guadeloupe, in disagreement with the historical records. Comparison of the frequency of distribution of various beta(S) haplotypes between neonates and adults on the one hand and between SS and SC cases on the other shows that the current beta(S) haplotype distribution in this island is not distorted by haplotype-related differential survival. We also show that the frequency of alpha-thalassemia (-3.7 kb) in Guadeloupe is one of the highest recorded in this region involved in Atlantic slave trade and also failed to reveal any age-dependent increase in frequency. We conclude that the African component of Guadeloupe is distinct from that of Brazil and Cuba but is close to that of Jamaica.
Assuntos
Anemia Falciforme/genética , Globinas/genética , Talassemia alfa/genética , Adulto , Cuba , Guadalupe , Haplótipos , Humanos , Recém-NascidoRESUMO
As in most caribbean countries, Sickle Cell Disease (SCD) is a major public health problem in Guadeloupe. A prenatal counselling program was developed, at an early stage of pregnancy, for at-risk couples. Over a 6 year period, 144 couples at-risk of having a child with homozygous sickle cell (SS: n = 103) or sickle cell C disease (SC: n = 41) were seen for prenatal counselling. Among those belonging to the SS risk group, 64 (62%) underwent prenatal diagnosis (PND), which allowed identification of 27 SS fetuses, with an induced abortion rate of 70%. Among those of the SC risk group, 14 (34%) accepted PND and the diagnosis of SC was made in 5 cases with an induced abortion rate of 60%. Factors, appeared to play a role in seeking PND and induced abortion, were the type of risk (SS or SC), multiparity, existence of affected child in the family and gestational age at the time of counselling. Our experience reveals that, an early prospective identification of at-risk couples combined with education to increase the awareness of the problem at the individual and population level need to be achieved to further improve the efficiency of our prevention program.
Assuntos
Anemia Falciforme/genética , Aconselhamento Genético , Aborto Induzido , Feminino , Guadalupe , Hemoglobinas/genética , Humanos , Gravidez , Estudos RetrospectivosRESUMO
In order to perform genetic counselling and prenatal diagnosis of Hb-S-beta-thalassemia disease and beta-thalassemia, we have delineated the spectrum of beta-thalassemia alleles in the Guadeloupean population. A sample of 63 unrelated families was analyzed including 70 beta-thalassemia carriers, 52 Hb-S-beta-thalassemia, and 8 patients with different beta-thalassemic hemoglobinopathies. Among the eleven mutations identified, four of them [-29 (A --> G), IVS-I-5 (G --> A), IVS-II-1 (G --> A), and IVS-I-5 (G --> C)] account for 77.6% of the beta-thalassemia chromosomes present in the studied families. The seven other variants, CD 24 (T --> A), IVS-I-2 (T --> C), Poly A (T --> C), -88 (C --> T), IVS- 11-849 (A --> G), Hb E, and Hb Lepore are less frequent. As a result, Hb S-beta+-thalassemia type 1 (low Hb A values: 5-15%) together with Hb S-beta(omicron)-thalassemia phenotypes are as frequent as Hb S-beta+-thalassemia type 2 (high Hb A values: 20-30%) in the Guadeloupean population. Patients with Hb S-beta+-thalassemia type 2 have milder hematological manifestations of the disease compared to patients with Hb S-beta(omicron)-thalassemia and Hb S-beta+-thalassemia type 1. This first report on the type and nature of beta-thalassemia mutations in Guadeloupe shows that prenatal diagnosis of Hb S-beta-thalassemia and beta-thalassemia should be feasible by direct detection of point mutation in most cases.
Assuntos
Globinas/genética , Talassemia beta/genética , África Ocidental/etnologia , Alelos , Anemia Falciforme/epidemiologia , Anemia Falciforme/etnologia , Anemia Falciforme/genética , Frequência do Gene , Aconselhamento Genético , Guadalupe/epidemiologia , Hemoglobina Falciforme/genética , Humanos , Índia/etnologia , Região do Mediterrâneo/etnologia , Traço Falciforme/complicações , Traço Falciforme/epidemiologia , Traço Falciforme/etnologia , Traço Falciforme/genética , Talassemia beta/complicações , Talassemia beta/epidemiologia , Talassemia beta/etnologiaRESUMO
In order to delineate the spectrum of á-thalassaemia (á-thal) mutations in the Guadeloupean population, we have analysed a representative sample of 59 unrelated families carrying a á-thalassaemia trait. Using gene amplification, hybridization with 32P-labelled oligonucleotide probes and sequencing of amplified DNA, 8 different á-thal mutations were identified in 62 members of 36 families. Four of these families carried a á§-thal trait whereas, in the 32 others, a á+-thal trait has been identified. All patients were á-thal heterozygous: 30 had Hb S/á-thal, 1 had Hb C/á-thal, 1 had HPFH/á-thal whereas the remaining 30 had a Hb A/á-thal genotype. Four of the á-thal mutations detected [-29 (A -> G), IVS-I-5 (G -> C), IVS-II-1 (G -> A) and CD 24 (T -> A)] accounted for approximately 88.8 percent of the á-thalassaemia chromosomes identified. The four other variants, -88 (C -> T), IVS-I-5 (G -> A), IVS-I-5 (G -> T) and IVS-I-2 (T -> C), are less frequent. The á-thalassaemia mutations in 23 families remained unidentified and are under investigation. This study provides data for prenatal diagnosis of sickle-cell disease for Hb S/á-thalassaemia genotypes (AU)
Assuntos
Humanos , Masculino , Feminino , Talassemia beta/genéticaAssuntos
Hemoglobinas Anormais , Adulto , Sequência de Aminoácidos , Aminoácidos/análise , Cromatografia Líquida de Alta Pressão , Feminino , Globinas/isolamento & purificação , Guiana , Hemoglobinas Anormais/isolamento & purificação , Humanos , Concentração de Íons de Hidrogênio , Focalização Isoelétrica , Dados de Sequência MolecularRESUMO
The determination of fructosamine is a new colorimetric method to measure non-enzymatically glycated proteins in serum (Johnson et al, 1982). It has been proposed that fructosamine measurement in sera is an index of glucose control (1 to 3 weeks) during the period corresponding to plasma protein turnover (Baker, 1983). The purpose of the study was to adapt the test to centrifugal analysis, to establish normal ranges of fructosamine in blood for non-diabetic subjects and to correlate fructosamine levels with fasting blood glucose concentrations and glycated haemoglobins in normal and diabetic patients (WHO criteria). The results show a significant correlation between these tests. The fructosamine test seems to be useful as a screening test for diabetes mellitus and is suitable for assessing the control of blood glucose. Fructosamine determination represents an alternative measurement to glycated haemoglobin in blood. It is technically simple, accurate and easier in regard to automated adaptation (AU)
Assuntos
Humanos , Diabetes Mellitus/sangue , Diabetes Mellitus/prevenção & controle , Glicemia/análiseAssuntos
Hemoglobinopatias/sangue , Hemoglobinas Anormais/análise , População Rural , Adolescente , Adulto , Idoso , Eletroforese das Proteínas Sanguíneas , Criança , Pré-Escolar , Feminino , Haiti , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Lactente , Masculino , Pessoa de Meia-IdadeRESUMO
The genetic polymorphism previously reported to be associated with the sickle-cell (beta S) gene in black U.S.A. citizens was studied in the population of two French West-Indies islands in order to evaluate its potential application to the antenatal diagnosis of sickle-cell anaemia. The polymorphism consists of a change in the DNA sequences located near the 3' end of the beta globin gene. The change can be detected by means of the restriction endonuclease Hpa I. When cellular DNA is digested with this enzyme, the beta globin gene is contained in a DNA fragment measuring either 7.6 or 13.0 kilobases (kb). In 70% of SS homozygous subjects in Martinique and 57% in Guadeloupe the beta S gene was carried by a 13.0 kb DNA fragment, whereas the normal beta A gene was carried by a 7.6 kb DNA fragment. This polymorphism would make it possible to detect the foetal beta S gene in the DNA of amniotic fluid cells by linkage analysis.