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1.
Lancet Haematol ; 8(10): e770-e776, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34481544

RESUMO

The low recruitment and retention of blood donors in sub-Saharan Africa is a grave concern for blood transfusion services in the region. This problem is exacerbated by factors such as a high prevalence of transfusion-transmissible infections and anaemia, over-reliance on family replacement donors, resource constraints, and poor communication with the public. To improve blood safety and availability, innovative intervention strategies must be developed and implemented. The primary objective of this Series paper is to discuss the available evidence in the region and to provide recommendations on how to improve safe blood supply in sub-Saharan Africa. These recommendations include a call for renewed attention to donor recruitment in blood transfusion centres, a consistent and structured educational intervention, the development and adherence to national policies on blood donor selection with focus on voluntary donations, and comprehensive screening of donations for transfusion-transmissible infections. TRANSLATION: For the French translation of the abstract see Supplementary Materials section.


Assuntos
Segurança do Sangue/estatística & dados numéricos , África ao Sul do Saara/epidemiologia , Transfusão de Sangue , Humanos
2.
BMJ Open ; 11(7): e048208, 2021 07 23.
Artigo em Inglês | MEDLINE | ID: mdl-34301659

RESUMO

OBJECTIVES: To provide lay information about genetics and sickle cell disease (SCD) and to identify and address ethical issues concerning the Sickle Cell Disease Genomics of Africa Network covering autonomy and research decision-making, risk of SCD complications and organ damage, returning of genomic findings, biorepository, data sharing, and healthcare provision for patients with SCD. DESIGN: Focus groups using qualitative methods. SETTING: Six cities in Ghana, Nigeria and Tanzania within communities and secondary care. PARTICIPANTS: Patients, parents/caregivers, healthcare professionals, community leaders and government healthcare representatives. RESULTS: Results from 112 participants revealed similar sensitivities and aspirations around genomic research, an inclination towards autonomous decision-making for research, concerns about biobanking, anonymity in data sharing, and a preference for receiving individual genomic results. Furthermore, inadequate healthcare for patients with SCD was emphasised. CONCLUSIONS: Our findings revealed the eagerness of patients and parents/caregivers to participate in genomics research in Africa, with advice from community leaders and reassurance from health professionals and policy-makers, despite their apprehensions regarding healthcare systems.


Assuntos
Anemia Falciforme , Bancos de Espécimes Biológicos , Anemia Falciforme/genética , Genômica , Gana , Humanos , Nigéria , Pesquisa Qualitativa , Tanzânia
4.
Adv Hematol ; 2020: 5157031, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33299420

RESUMO

Sickle Cell Anaemia (SCA) is associated with a hypercoagulable state resulting in a predisposition to venous thromboembolism. With improvements in the quality of care, more patients with SCA survive into adulthood with an associated increase in the frequency of end-organ damage and chronic complications such as chronic leg ulcers (CLUs). These ulcers rarely occur in the first decade of life and are recurrent, painful, and slow-to-heal. This study tested the hypothesis that coagulation is enhanced in SCA patients with CLU. 145 participants (50 SCA with CLU, 50 SCA without CLU, and 45 with haemoglobin AA) were assessed to determine their coagulation profile using selected tests of coagulation. The SCA with the CLU group had the lowest mean haemoglobin (Hb) concentration. SCA patients with and without CLUs had elevated mean platelet counts, shorter mean aPTT, and marginally prolonged mean PT compared to HbAA patients. SCA with CLUs patients had a significantly shortened aPTT than those without CLUs (p = 0.035) and HbAA (p = 0.009). There were significant differences in the mean PT between SCA with CLUs patients and HbAA (p = 0.017); SCA without CLU and HbAA (p = 0.014). SCA with and without CLUs patients had higher mean D-dimer levels compared to HbAA. There was a negative correlation between Hb concentration and duration of CLU (r = -0.331, p = 0.021). In conclusion, our study demonstrates a heightened hypercoagulability in SCA patients with CLUs. We did not test for platelet activation, and it is not clear what role, if any, the enhanced hypercoagulability plays in the pathogenesis of CLUs in SCA. It will be useful to ascertain if antiplatelet agents or/and anticoagulants quicken the healing of CLUs in SCA patients.

6.
J Trop Med ; 2020: 6718985, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32695185

RESUMO

Lead poisoning has been a major global health problem for decades, and blood transfusion has been suspected as a neglected potential source of lead exposure. Children and pregnant women are most vulnerable to the toxic effects of lead and over 40 percent of blood transfused in Ghana is given to children under 5 years. However, there is little data on the levels of lead in donor blood and the main sources of lead exposure in the Ghanaian population. This study compared blood lead levels (BLL) among selected occupations at risk of lead exposure with healthy blood donors in nonexposed occupations in a Ghanaian mining area. We enrolled 40 participants each from the following high-risk occupational groups: small scale miners, painters/sprayers, drivers/fuel station attendants, and auto-mechanics as well as 40 healthy blood donors (made up of teachers, traders, and office workers). One millilitre of blood was collected from each participant for determination of their BLL, haemoglobin concentration, and blood film morphology. A total of 200 participants made up of 186 (93%) males and 14 (7%) females were enrolled. The mean age of participants was 28.6 ± 8.2 years and their geometric mean (GM) BLL was 6.3 GSD 1.4 µg/dL [95% CI: 6.0 - 6.6]. Participants in high risk occupations had significantly higher GM BLL of 6.7 µg/dL [95% CI :6.4-7.0] compared to 5.0 µg/dL [95% CI: 4.4-5.7] for healthy blood donors [p < 0.001]. The prevalence of elevated BLL (≥5 µg/dL) among the entire study participants, high risk occupations and blood donors was 84.5%, 89.4% and 65% respectively. There was significant association between elevated BLLs and working in an at-risk occupational group [aOR = 3.58, p = 0.014]. Haemoglobin concentration was not significantly associated with elevated BLLs. Basophilic stippling was not observed in any of the blood smears. Blood lead levels were high in blood donors and at-risk occupations in the study area and occupation was associated with elevated BLLs. It is important that measures to safeguard the integrity of donor blood go beyond screening for infectious diseases to include screening individuals in high-risk occupations for lead and other heavy metals to ensure that donor blood from such individuals is safe and does not pose potential danger to the health of vulnerable populations such as children and pregnant women.

9.
Int J Gynaecol Obstet ; 146(3): 333-338, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31206635

RESUMO

OBJECTIVE: To determine the occurrence of and risk factors for fetomaternal hemorrhage (FMH) among pregnant women at Korle Bu Teaching Hospital in Accra, Ghana. METHODS: A prospective study of FMH among pregnant women without hemoglobinopathies in the second trimester attending prenatal care between October 2015 and May 2016 performed using the Kleihauer-Betke test. Volume of FMH was estimated; ABO and Rh blood groups of participants were determined. A data extraction form and structured questionnaire were used to collect demographic and clinical information, and data on risk factors. RESULTS: Of 151 participants, 32 (21.2%) had FMH. Almost 18% (n=27) had FMH at baseline (16-24 weeks), 10% (10/100) at 28-32 weeks, and 11.1% (11/99) at 34-37 weeks of pregnancy. Volume of FMH was less than 30 mL in 30 (19.9%) women, whereas it was greater than 30 mL in 2 (1.3%) women. No identifiable patient-specific factors were associated with occurrence of FMH. CONCLUSION: FMH is common among pregnant women in Ghana and can occur as early as 16 weeks, without identifiable risk factors. RhD negative women who may be pregnant with RhD positive fetuses should be screened early in pregnancy, not only at delivery, for occurrence of FMH.


Assuntos
Transfusão Feto-Materna/epidemiologia , Adulto , Feminino , Transfusão Feto-Materna/sangue , Transfusão Feto-Materna/diagnóstico , Gana/epidemiologia , Humanos , Gravidez , Cuidado Pré-Natal/métodos , Estudos Prospectivos , Sistema do Grupo Sanguíneo Rh-Hr/sangue , Fatores de Risco
10.
Biomed Res Int ; 2019: 3427174, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30895191

RESUMO

Carriage of pneumococcus is considered as the precursor for development of pneumococcal disease. In sub-Saharan Africa, very little research has been done on the pneumococcus in relation to people with HIV infection in the era of pneumococcal conjugate vaccines. This study investigated pneumococcal carriage among HIV/AIDS patients in southern Ghana to determine the prevalence, risk factors, serotypes and antibiotic resistance of the organism. This was a cross sectional study involving 245 HIV/AIDS patients recruited from Korle Bu Teaching Hospital and Princess Marie Louis Hospital in Accra from November 2016 to March 2017. Epidemiological data on demographic, household and clinical features of the study participants were collected. Nasopharyngeal (NP) swabs were also collected from the study participants and cultured for Streptococcus pneumoniae; the isolates were serotyped by latex agglutination and Quellung reaction. Antimicrobial disc susceptibility was performed on the isolates, and antibiotics tested included tetracycline, erythromycin, cotrimoxazole, levofloxacin, oxacillin and ceftriaxone. Prevalence of pneumococcal carriage among the study participants was 11% (95% CI: 7.4 to 15.6); carriage among children and adults was 25% (95% CI: 14% to 38.9%) and 7.3% (95% CI: 4% to 11.9%) respectively. School attendance (p=0.001) and history of pneumococcal disease in the past year (p=0.001) were significantly associated with pneumococcal carriage. The most prevalent pneumococcal serotypes carried by the study participants were 19A (15.4%) and 23F (15.4%). Serotype coverage of the various pneumococcal vaccines were PCV10 (23.1%), PCV13 (42.3%) and PPV23 (50%). The prevalence of pneumococcal multidrug resistance was 18.5%. In conclusion, pneumococcal carriage among HIV-infected children was three-fold higher compared to carriage among HIV-infected adults. Pneumococcal carriage among both HIV-infected children and adults in the study area tends to be characterized by a predominance of non-vaccine serotypes and a considerable level of multidrug resistance.


Assuntos
Portador Sadio/epidemiologia , Portador Sadio/imunologia , Infecções por HIV/imunologia , Infecções por HIV/microbiologia , Vacinas Pneumocócicas/imunologia , Streptococcus pneumoniae/fisiologia , Vacinas Conjugadas/imunologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Resistência Microbiana a Medicamentos , Características da Família , Feminino , Gana/epidemiologia , Infecções por HIV/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Sorogrupo , Streptococcus pneumoniae/isolamento & purificação , Adulto Jovem
11.
Am J Hematol ; 94(2): 223-230, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30456766

RESUMO

In Africa, the maternal mortality rate in sickle cell disease (SCD) is ~10%. Our team previously demonstrated an 89% decrease in mortality rate in a before-and-after feasibility study among women with SCD living in low-resource setting in Ghana. In the same cohort including additional participants with and without SCD, we used a prospective cohort design to test the hypothesis that implementing a multidisciplinary care team for pregnant women with SCD in low-resource setting will result in similar maternal and perinatal mortality rates compared to women without SCD. We prospectively enrolled pregnant women with and without SCD or trait and followed them up for 6-week postpartum. We tested the newborns of mothers with SCD for SCD. We recruited age and parity matched pregnant women without SCD or trait as the comparison group. Maternal and perinatal mortality rates were the primary outcomes. A total of 149 pregnant women with SCD (HbSS, 54; HbSC, 95) and 117 pregnant women without SCD or trait were included in the analysis. Post-intervention, maternal mortality rates were 1.3% and 0.9% in women with and without SCD, respectively (P = 1.00); the perinatal mortality rates were 7.4% and 3.4% for women with and without SCD, respectively (P = 0.164). Among the mothers with SCD, ~15% of newborns had SCD. Multidisciplinary care of pregnant women with SCD may reduce maternal and perinatal mortality rates to similar levels in pregnant women without SCD in low-resource settings. Newborns of mothers with SCD have a high rate of SCD.


Assuntos
Anemia Falciforme/mortalidade , Recursos em Saúde , Complicações Hematológicas na Gravidez/mortalidade , Resultado da Gravidez , Adulto , África , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Mortalidade Materna , Mortalidade Perinatal , Gravidez , Estudos Prospectivos
12.
PLoS One ; 13(11): e0206728, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30408061

RESUMO

BACKGROUND: Pneumococcal carriage is the precursor for development of pneumococcal disease, and is also responsible for transmission of the organism from person-to-person. Individuals with Sickle Cell Disease (SCD) are more likely to develop invasive disease with S. pneumoniae compared to their healthy counterparts and the presentation of disease in the former is usually abrupt and severe. In Africa, little is known about the pneumococcus in relation to people with SCD Sickle Cell Disease (SCD). The aim of the study was to investigate the epidemiology of pneumococcal carriage among SCD patients including the carriage prevalence, risk factors, serotypes and antibiotic resistance. METHOD: This was a cross sectional study involving 402 SCD patients recruited from Korle Bu Teaching Hospital and Princess Marie Louis Hospital in Accra from October 2016 to March 2017. The study subjects included 202 children of the age groups: ≤5 years (94), >5-9 years (75), ≥10-13 years (33) and 200 adults of the age groups: 14-20 years (46), 21-40 years (112), 41-60 years (25), ≤ 61 years (17). Nasopharyngeal (NP) swabs were collected from the study participants as well as epidemiological data on demographic, household and clinical features. The NP specimens were cultured for S. pneumoniae and the isolates were serotyped by latex agglutination. Antimicrobial susceptibility tests of the isolates were done by the disc diffusion test and E-test. RESULTS: Prevalence of S. pneumoniae carriage among children and adult SCD patients enrolled in the study were 79/202 (39.1%; 95% CI: 32.3 to 46.2) and 20/200 (10.0%; 95% CI: 6.2 to 15.0) respectively. Risk factors associated with pneumococcal carriage were age (OR = 1.137; 95% CI: 1.036-1.248; p = 0.007) and runny nose (OR = 5.371; 95% CI: 1.760-16.390; p = 0.003). Overall, twenty-six pneumococcal serotypes were isolated from the study participants and the predominant serotype was 6B (10.6%), followed by 23B (8.2%). Among the children, serotype coverage of the 13-valent Pneumococcal Conjugate Vaccine, which is currently used in Ghana was 32.4%. Prevalence of penicillin resistance among the pneumococcal isolates was 37.4% (37/99) and all the penicillin-resistant isolates exhibited intermediate penicillin resistance with the exception of one isolate that showed full resistance and was susceptible to ceftriaxone. Prevalence of resistance to the other antibiotics ranged from 2.5% (levofloxacin) to 85% (cotrimoxazole). Multidrug resistance occurred among 34.3% (34/99) of the pneumococcal isolates. CONCLUSION: Pneumococcal carriage was four-fold higher in SCD children than adults and was characterized by predominance of non-vaccine serotypes and considerable level of multidrug resistance, though penicillin, cefotaxime and levofloxacin resistance appeared to be very low.


Assuntos
Anemia Falciforme/complicações , Anemia Falciforme/microbiologia , Portador Sadio/microbiologia , Infecções Pneumocócicas/complicações , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Portador Sadio/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Resistência Microbiana a Medicamentos , Feminino , Gana/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Infecções Pneumocócicas/epidemiologia , Prevalência , Estudos Prospectivos , Fatores de Risco , Sorogrupo , Streptococcus pneumoniae/classificação , Streptococcus pneumoniae/efeitos dos fármacos , Streptococcus pneumoniae/patogenicidade , Adulto Jovem
14.
PLoS One ; 13(1): e0190347, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29300776

RESUMO

Individuals with sickle cell disease particularly with the homozygous (SS) genotype historically have relatively low blood pressure. Nonetheless, they develop vasculopathy-associated organ dysfunction and the risk of organ dysfunction increases at blood pressures that are normal in the general population. This phenomenon is termed relative systemic hypertension (RSH) with a systolic blood pressure range of 120-139 mmHg, and diastolic blood pressure range of 70-89 mmHg. The significance of RSH lies in its association with renal insufficiency, pulmonary hypertension, stroke and propensity to progress to systemic hypertension. We conducted a retrospective chart review of 1,000 adults with sickle cell disease at the Ghana Institute of Clinical Genetics, to determine the prevalence of RSH in sickle cell disease in Ghana and associated complications. We found a high prevalence of RSH and hypertension with a relatively low frequency of renal insufficiency. Pulse pressure, a predictor of mortality, was higher in males of all ages. We anticipate that providing an estimate of the burden of RSH will heighten its recognition and clinical management among health care providers.


Assuntos
Anemia Falciforme/complicações , Hipertensão/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Gana/epidemiologia , Humanos , Hipertensão/complicações , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
15.
Adv Hematol ; 2018: 6161270, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30631363

RESUMO

In Africa, sickle cell disease (SCD) is a major public health problem with over 200,000 babies born per year. In Ghana, approximately 15,000 (2%) of Ghanaian newborns are diagnosed with SCD annually. A retrospective review of medical records of all SCD patients aged 13 years and above, who presented to the sickle cell clinic at Ghana Institute of Clinical Genetics (GICG), Korle-Bu, from 1st January 2013 to 31st December 2014, was carried out, using a data abstraction instrument to document their phenotypes, demographics, attendance/clinic visits, pattern of attendance, and common complications seen. During the period under review 5,451 patients were seen at the GICG, with 20,788 clinic visits. The phenotypes were HbSS (55.7%) and HbSC (39.6%) with other sickle cell phenotypes (4.7%). Out of the 20,788 clinic visits, outpatient visits were 15,802 (76%), and urgent care visits were 4,986 (24%), out of which 128 (2.6%) patients were admitted to the Teaching Hospital for further management of their acute complications. There were 904 patient referrals (out of 5,451 patients) for specialist care; the 3 specialties that had the most referrals were Obstetrics and Gynaecology (168 patients), Orthopaedics (150 patients), and Ophthalmology (143 patients). In 2014, complications seen at KBTH included 53 patients with avascular necrosis (AVN) and 61 patients with chronic leg ulcers. Our centre has a large number of patients living with sickle cell disease. From our experience, early recognition and referral of sickle cell related complications can reduce morbidity and mortality associated with this disease. A multidisciplinary approach to care of SCD patients is therefore important.

16.
Am J Hematol ; 92(9): 872-878, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28512745

RESUMO

Sickle cell disease (SCD) is associated with adverse pregnancy outcome. In women with SCD living in low-resource settings, pregnancy is associated with significantly increased maternal and perinatal mortality rates. We tested the hypothesis that implementing a multidisciplinary obstetric and hematology care team in a low-resource setting would significantly reduce maternal and perinatal mortality rates. We conducted a before-and-after study, at the Korle-Bu Teaching Hospital in Accra, Ghana, to evaluate the effect of a multidisciplinary obstetric-hematology care team for women with SCD in a combined SCD-Obstetric Clinic. The pre-intervention period was assessed through a retrospective chart review to identify every death and the post-intervention period was assessed prospectively. Interventions consisted of joint obstetrician and hematologist outpatient and acute inpatient reviews, close maternal and fetal surveillance, and simple protocols for management of acute chest syndrome and acute pain episodes. Primary outcomes included maternal and perinatal mortality rates before and after the study period. A total of 158 and 90 pregnant women with SCD were evaluated in the pre- and post- intervention periods, respectively. The maternal mortality rate decreased from 10 791 per 100 000 live births at pre-intervention to 1176 per 100 000 at post-intervention, representing a risk reduction of 89.1% (P = 0.007). Perinatal mortality decreased from 60.8 per 1000 total births at pre-intervention to 23.0 per 1000 at post-intervention, representing a risk reduction of 62.2% (P = 0.20). A multidisciplinary obstetric and hematology team approach can dramatically reduce maternal and perinatal mortality in a low-resource setting.


Assuntos
Síndrome Torácica Aguda/mortalidade , Síndrome Torácica Aguda/terapia , Complicações Hematológicas na Gravidez/mortalidade , Complicações Hematológicas na Gravidez/terapia , Adolescente , Adulto , Feminino , Humanos , Recém-Nascido , Mortalidade Materna , Mortalidade Perinatal , Gravidez , Estudos Prospectivos , Estudos Retrospectivos
17.
Br J Haematol ; 177(6): 846-854, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28295193

RESUMO

Guidelines include recommendations intended to optimize patient care; used appropriately, they make healthcare consistent and efficient. In most lower-middle income countries (LMICs), there is a paucity of well-designed guidelines; as a result, healthcare workers depend on guidelines developed in Higher Income Countries (HICs). However, local guidelines are more likely to be implemented because they are applicable to the specific environment; and consider factors such as availability of resources, specialized skills and local culture. If guidelines developed in HICs are to be implemented in LMICs, developers need to incorporate local experts in their development. Involvement of local stakeholders may improve the rates of implementation by identifying and removing barriers to implementation in LMICs. Another option is to encourage local experts to adapt them for use in LMICs; these guidelines may recommend strategies different from those used in HICs, but will be aimed at achieving the best practicable standard of care. Infrastructural deficits in LMICs could be improved by learning from and building on the successful response to the human immunodeficiency virus/acquired immunodeficiency syndrome pandemic through interactions between HICs and LMICs. Similarly, collaborations between postgraduate medical colleges in both HICs and LMICs may help specialist doctors training in LMICs develop skills required for guideline development and implementation.


Assuntos
Atenção à Saúde/normas , Países em Desenvolvimento , Guias de Prática Clínica como Assunto , Fidelidade a Diretrizes , Hematologia/normas , Humanos
18.
BMC Res Notes ; 9(1): 507, 2016 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-27938396

RESUMO

BACKGROUND: Warfarin is a widely prescribed anticoagulant with narrow therapeutic window for thromboembolic events. Warfarin displays large individual variability in dose requirements. The purpose of this study is to assess the contribution of patient-specific and genetic risk factors to dose requirements of patients on either high or low warfarin maintenance dose in Ghana. Blood samples were collected from 141 (62 males, 79 females) Ghanaian patients on stable warfarin dose to determine their INR. Influence of patient specific factors and gene variations within VKORC1, CYP2C9 and CYP4F2 were determined in patients on either high or low warfarin maintenance dose. RESULTS: One hundred and forty-one patients took part in the study with 79 (56%) participants being Female. The median age of the study participants was 48 years [IQR: 34-58]. The median duration for patients to be on warfarin therapy was 24 months [IQR: 10-72]. Majority of the study participants (80.9%, n = 114) did not have any side effects to warfarin. CYP2C9*2 and CYP2C9*3 variant alleles were not detected. VKORC1 variant allele was observed at 6% and CYP4F2 variant allele was observed at 41%. Duration of patients on warfarin therapy was marginally associated with high warfarin dose (adjusted OR = 1.01 [95% CI 1.00-1.02], p = 0.033) while the odds of heterozygous individuals (G/A) for VKORC1 gene to have high warfarin dose compared to persons with homozygous (G/G) (adjusted OR = 0.06 [95% CI 0.01-0.63], p = 0.019). Age, gender, diagnosis, presence of side effects and other medications were not associated with warfarin dose (p = 0.05). CONCLUSION: This study provides data on VKORC1 and CYP4F2 variants among an indigenous African population. Duration of patients on warfarin therapy was marginally associated with high warfarin dose. CYP2C9*2 and *3 variants were not detected and may not be the most important genetic factor for warfarin maintenance dose among Ghanaians.


Assuntos
Anticoagulantes/uso terapêutico , Polimorfismo Genético , Varfarina/uso terapêutico , Adolescente , Adulto , Idoso , Alelos , Citocromo P-450 CYP2C9/genética , Família 4 do Citocromo P450/genética , Grupos Étnicos , Feminino , Frequência do Gene , Genótipo , Gana , Heterozigoto , Humanos , Coeficiente Internacional Normatizado , Masculino , Pessoa de Meia-Idade , Razão de Chances , Farmacogenética , Fatores de Risco , Classe Social , Vitamina K Epóxido Redutases/genética , Adulto Jovem
19.
Adv Hematol ; 2014: 604165, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25328527

RESUMO

Background. FISH is a molecular cytogenetic technique enabling rapid detection of genetic abnormalities. Facilities that can run fresh/wet samples for molecular diagnosis and monitoring of neoplastic disorders are not readily available in Ghana and other neighbouring countries. This study aims to demonstrate that interphase FISH can successfully be applied to archival methanol-fixed bone marrow and peripheral blood smear slides transported to a more equipped facility for molecular diagnosis of CML. Methods. Interphase FISH was performed on 22 archival methanol-fixed marrow (BM) and 3 peripheral blood (PB) smear slides obtained at diagnosis. The BM smears included 20 CML and 2 CMML cases diagnosed by morphology; the 3 PB smears were from 3 of the CML patients at the time of diagnosis. Six cases had known BCR-ABL fusion results at diagnosis by RQ-PCR. Full blood count reports at diagnosis were also retrieved. Result. 19 (95%) of the CML marrow smears demonstrated the BCR-ABL translocation. There was a significant correlation between the BCR-ABL transcript detected at diagnosis by RQ-PCR and that retrospectively detected by FISH from the aged BM smears at diagnosis (r = 0.870; P = 0.035). Conclusion. Archival methanol-fixed marrow and peripheral blood smears can be used to detect the BCR-ABL transcript for CML diagnosis.

20.
Pan Afr Med J ; 19: 289, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25870744

RESUMO

INTRODUCTION: Sickle cell disease is a collection of autosomal recessive genetic disorders. It includes homozygous HbSS and double heterozygote combinations such as HbSC. Central and West Africa bears a significant burden of HbSC disease. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen concentration (FC) and platelet count (PC) were determined in 41 HbSC and HbSS patients in steady state along with 40 apparently healthy HbAA controls. One way ANOVA test was used to compare means; p values< 0.05 were considered statistically significant. RESULTS: There was no significant difference in mean PT for the study groups (p = 0.192). Mean PC was highest in HbSS patients: 445.7 +/- 128.3 X 10 9/ L compared to HbSC: 330.0 +/- 97.7 X 10 9/ L and HbAA:245 +/- 77.7 X 10 9/ L (p = 0.000). Mean APTT was 28.1 +/- 3.8 seconds in controls,24.1 + /- 66 seconds in HbSS patients and 21.8 +/- 3.8 seconds in HbSC patients (p = 0.000). Mean FC in HbSS was 1.6 +/- 0.7 g/L, 3.2 +/- 0.6 g/L in HbSC and 2.9 +/- 0.4 g/L in HbAA (p = 0.000). CONCLUSION: A significant difference exists in PC, APTT and FC in HbSC patients compared to HbSS patients and HbAA controls. Elevated FC and shortened APTT may play a role in complications more characteristic of HbSC such as retinopathy and osteonecrosis. These suggest HbSC is not merely a milder form of HbSS; both diseases should be seen as different entities with regards to approaches for management.


Assuntos
Anemia Falciforme/sangue , Fibrinogênio/metabolismo , Doença da Hemoglobina SC/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Tempo de Tromboplastina Parcial , Contagem de Plaquetas , Tempo de Protrombina , Adulto Jovem
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