Assessment of MTR Rs1805087 SNP as Possible Modifier ofSickle Cell Disease Severity in a Nigerian Population

BACKGROUND: Sickle cell disease is the commonest geneticdisorder in Nigeria, affecting 2­3% of an estimated population of 160million people. The role of genetic mutations in folate cycle genes,and the variable phenotypic expressions constituting disease severity,needs to be critically examined.OBJECTIVE: This study was carried out to establish the pattern ofmethionine synthase gene mutations (rs1805087 SNP), and its possibleassociation with disease severity in adults with sickle cell anaemia inLagos, Nigeria.METHODOLOGY: This is a cross-sectional study of seventy (70)subjects with sickle cell disease (HbSS) matched for age and genderwith known apparently healthy haemoglobin genotype AA (HbAA)subjects, as cases and controls respectively. Structured questionnaireswere used to obtain demographic, clinical and other phenotypic dataneeded to compute disease severity. Pattern of MTR A2756G genemutation and homocysteine assay (Hcy) were assessed by PolymeraseCh ain Reaction and Enzyme- linked Immun osorbent Assayrespectively. Full blood count analysis of participants was done usingthe KX-21 Automated Analyzer (Sysmex Corporation, Japan).RESULTS: The mutant genotypes MTR 2756 AG/GG were recordedin 46.4% (n =55) of subjects with disease severity score >7. Elevatedplasma homocysteine (HHcy) was significantly associated withdisease severity among HbSS subjects (OR=17.2, CI: 3.490-86.079;p=0.0001). Conversely, no significant association was observed withthe mutant genotypes MTR 2756 AG/GG and disease severity(p>0.05).CONCLUSION: While HHcy is significantly associated withphenotypic expression of HbSS, the MTR 2756 SNPs did not appearto independently influence homocysteine level or disease severity inHbSS subjects

Effect of the COVID-19 pandemic on blood donations and transfusions in Nigeria ­ A multi-facility study of 34 tertiary hospitals

Background: The coronavirus disease 2019 (COVID-19) pandemic affected blood supplies globally. Mobile blood drive campaigns halted, and voluntary blood donations reduced, challenging available blood supplies. Furthermore, fears of virus transmission led to deferrals of elective surgeries and non-urgent clinical procedures with noticeable declines in blood donations and transfusions. Aims: We aimed to assess the effect of the COVID-19 pandemic on the number of blood donations and transfusions across the country by blood product type across various hospital departments. Materials and Methods: A retrospective descriptive study was conducted to determine the impact of the COVID-19 pandemic on blood services in 34 tertiary hospitals in Nigeria, comparing January to July 2019 (pre-COVID-19) to January to July 2020 (peri-COVID-19). Data were collected from the country's web-based software District Health Information System, Version 2 (DHIS2). Results: A 17.1% decline in numbers of blood donations was observed over the study period, especially in April 2020 (44.3%), a 21.7% decline in numbers of blood transfusions, especially in April 2020 (44.3%). The largest declines in transfusion were noted in surgery department for fresh frozen plasma (80.1%) [p = 0.012] and accident and emergency department transfusion of platelets (78.3%) [p = 0.005]. The least decline of statistical significance was observed in internal medicine transfusions of whole blood (19.6%) [p = 0.011]. Conclusions: The COVID-19 pandemic significantly affected the numbers of blood donations and transfusions in Nigeria. Strengthening blood services to provide various blood components and secure safe blood supplies during public health emergencies is therefore critical.