(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study

ABSTRACT Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.

SCREENING OF FUNGI FOR PRODUCTION AND PURIFICATION OF OMEGA-3 FATTYACID

Sickle cell hemoglobinopathy patients are vexed with sickle cell crises crises all through their life. Occurrence of jaundice in these patients is quite common and when present gets ascribed to the sickle cell crisis, sickle cell hepatopathy, intrahepatic cholestasis or cholelithisis. Further, incidence of viral hepatitis is extremely common in these patients. Clinically it is difficult to distinguish this aetiology. We have attempted to identify the criteria to help differentiate amongst sicklers which patients should be investigated for viral hepatitis. Also, sicklers with hepatitis have been studied against non sicklers with hepatitis and also complications of hepatitis in these two groups.

Contemporary Management and Prevention of Vaso-Occlusive Crises (VOCs) in Adults With Sickle Cell Disease

Sickle cell disease (SCD) is a hematological disorder that primarily affects individuals of African descent from sub-Saharan Africa and along the mediterranean. The main complications leading to hospitalizations include vaso-occlusive crises (VOCs) and acute chest syndrome (ACS). Therefore, the main objective of this paper was to identify and evaluate evidence-based management and prevention of VOCs in patients with SCD. A literature search of PubMed, Medline Cochrane and Google Scholar database (January 1985 to April 2020) was performed using the following search terms “vaso-occlusive crises”, “sickle cell disease”, “hydroxyurea”, “L-glutamine”, “voxelotor”, “crizanlizumab”, “treatment” and “prevention” as well as a combination of these terms. All English-language interventional studies assessing the efficacy and safety of VOC outcomes were evaluated. Literature was excluded if published in a language other than English or if it was a review article. A total of 69 articles were identified and there were 7 articles that met the search criteria. Majority of the studies focused on mean and median annual rates of VOCs as primary outcomes while median time to first sickle cell crises, median rates of hospitalizations etc were evaluated as secondary outcomes. After reviewing the literature, many patients with VOCs will still benefit from hydroxyurea therapy since long term efficacy data and cost is still a concern for the newer agents including L-glutamine, voxelotor and crizanlizumab. Other factors such as cost or compliance may also be taken into consideration when making recommendations for therapy.

Acute medical presentations

This chapter provides concise details of the clinical features, immediate management, key investigations, and further management of all of the common acute medical presentations. Other scales, charts, and reference tables are also provided where relevant. These emergency presentations are clearly organized in the following sections: cardiac, respiratory, gastrointestinal, renal, metabolic and endocrine, neurological, infectious diseases, psychiatric, and ‘other’ (disseminated intravascular coagulation, extremes of temperature, and sickle cell crises). Links throughout the chapter also point back into the detailed discussion of each relevant presentation that the Oxford Textbook of Medicine provides.

HOMOZYGOUS DELETION ALFA-THALASSEMIA AND HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, TWO GENETIC FACTORS PREDICTIVE THE REDUCTION OF MORBIDITY AND MORTALITY DURING PREGNANCY IN SICKLE CELL PATIENTS . A REPORT FROM DEMOCRATIC REPUBLIC OF CONGO

FHb and alpha-thal are two genetic factors that modulate the clinical expression of sickle cell disease. Objective: to determine the beneficial role of FHb and alpha-thal on fetal and maternal morbidity during pregnancy in sickle cell patients. This is a documentary and analytical study that included 960 deliveries of homozygous sickle cell patients. The deliveries were divided into three genotype subgroups: Hb-SS / alpha-thal, HbSS / HPFH and HbSS. The diagnosis of SCD and the quantification of FHb were performed by the capillary electrophoresis technique. The diagnosis of SCD has been confirmed by the molecular test. The diagnosis of alpha-thal was made by the multiplex ligation dependent probe amplification (MLPA) technique. Sickle cell pregnancies were followed according to the protocol of care in force in our service. The variables of interest were: hematological variables, sickle cell crises during pregnancy, maternal and fetal complications. Statistical analyzes were performed with SPSS 20.0 software. Means and standard deviations were compared with the Student's t and Annova tests. The value of p <0.05 was considered the significance level. The Hb-SS / alpha-thal and HbSS / HPFH genotypes were observed in 101 and 121 women respectively. Otherwise 758 women had the HbSS genotype. The morbidity related to sickle cell complications in the mother and fetus, were less frequent in the Hb-SS / alpha-thal and HbSS / HPFH groups. The statistical differences were statistically significant. This study showed a significant protective effect of alpa-thal and HPFH during pregnancy in sickle-cell pregnant women. FHb and alpha-thal are two genetic factors that modulate the clinical expression of sickle cell disease. Objective: to determine the beneficial role of FHb and alpha-thal on fetal and maternal morbidity during pregnancy in sickle cell patients. This is a documentary and analytical study that included 960 deliveries of homozygous sickle cell patients. The deliveries were divided into three genotype subgroups: Hb-SS / alpha-thal, HbSS / HPFH and HbSS. The diagnosis of SCD and the quantification of FHb were performed by the capillary electrophoresis technique. The diagnosis of SCD has been confirmed by the molecular test. The diagnosis of alpha-thal was made by the multiplex ligation dependent probe amplification (MLPA) technique. Sickle cell pregnancies were followed according to the protocol of care in force in our service. The variables of interest were: hematological variables, sickle cell crises during pregnancy, maternal and fetal complications. Statistical analyzes were performed with SPSS 20.0 software. Means and standard deviations were compared with the Student's t and Annova tests. The value of p <0.05 was considered the significance level. The Hb-SS / alpha-thal and HbSS / HPFH genotypes were observed in 101 and 121 women respectively. Otherwise 758 women had the HbSS genotype. The morbidity related to sickle cell complications in the mother and fetus, were less frequent in the Hb-SS / alpha-thal and HbSS / HPFH groups. The statistical differences were statistically significant. This study showed a significant protective effect of alpa-thal and HPFH during pregnancy in sickle-cell pregnant women.

Haematology

Tackling haematology is never easy. Revision can be a struggle, as it may not always be obvious which topic areas will be directly relevant to clin­ical practice. We still, however, benefit from an understanding of these areas and an appreciation of how to do and interpret the basics and when more expertise is required. Sometimes the answers require a trip right back to the stem cell. A junior doctor’s most frequent contact with haematology is in interpreting a full blood count. In this task, the core skills of the chapter come to the fore— in response to an anaemia, we should be able to explore the possibilities of iron deficiency, vitamin deficiency, and haem­olysis. On seeing a thrombocytopenia or an abnormal clotting profile, we should be able to make a clinical assessment and perform further appropriate tests, with a view to suggesting differential diagnoses. The questions in this chapter aim to build confidence in these tasks. There is a lot more to haematology, however, than a blood count. As a junior doctor, there will be regular practical challenges such as pre­scribing and altering anticoagulation therapy, overseeing the safe delivery of a blood transfusion, and managing acute situations such as sickle- cell crises. The way forward is to be able to master these basics and start to see the bigger picture. This means developing a feel for the more subtle symptoms and signs of haematological disease and becoming proactive in the face of abnormal blood results. As with all of the chapters in this book, it is a way of thinking that is crucial— one that allows confident management of common situations and recognition of potentially catastrophic conditions, but also one that encourages creativity and initiative. When faced with a clinical conun­drum, we should have the knowledge and confidence to ask appropri­ately: ‘Is the answer in the blood?’