RESUMEN
Background: Sickle cell disease (SCD) is the commonest genetic disorder worldwide with a global prevalence of 20-25 million. About 12-15 million affected persons are in Sub-Sahara Africa with Nigeria bearing the highest burden of people living with sickle cell disease. SCD is a disease characterized as an autosomal, recessive, heterogeneous, and a monogenetic disorder caused by an A-to-T point mutation in the β-globin gene responsible for the production of abnormal hemoglobin S (HbS), which polymerizes in the deoxygenated state and results in the sickling of erythrocytes. Haemoglobin variants are mutant forms of haemoglobin in a population usually occurring as a result of genetic changes in specific genes, or globins that causes change on alterations in the amino acid. They could affect the structure, behavior, the production rate and the stability of the specific gene. Well-known haemoglobin variants such as sick-cell anaemia are responsible for diseases and are considered haemoglobinopathies. Other variants cause no detectable pathology and are thus considered as non-pathological variants. Aim: The study is aimed at evaluating the burden of sickle cell disease and other haemoglobin variants in Calabar, South-South Nigeria. Methods: This is a retrospective study done at the haematology laboratory of University of Calabar Teaching Hospital, Calabar. Cellulose acetate electrophoresis at alkaline pH was used for the evaluation of haemoglobinopathies. The data were entered into Microsoft Excel 2016 spreadsheet and analysed with the IBM SPSS Version 22. Data were summarized into percentage of different phenotypes. Results: Results of the total 3648 haemoglobin electrophoresis recorded, 1368 (37.50%) were male while the remaining 2280 (62.5%) females given a male to female ratio of 1:1.7. Five haemoglobin phenotypes were identified as HbAA, HbAS, HbAC, HbSC and HbSS. The overall average values of their prevalence were HbAA 64.78%, HbAS 32.62%, HbSS 2.14%, HbAC 0.33%, HbSC 0.14%. Thus, the prevalence of SCD (Prevalence of HbSS+HbSC) was 2.28%. The highest proportion of SCD was observed in 2011 with least in 2016 and 2017 respectively. Conclusion: The prevalence of SCD and other haemoglobin variants in Calabar is similar to that of the national prevalence rate. There is need for continuous enlightenment and premarital counselling on the pattern of inheritance of SCD most especially with the increased burden of sickle traits in the environment has reported in this study.
RESUMEN
Background: Sickle cell disease (SCD) is often associated with liver disease. The constant state of haemolysis, multiple blood transfusion, viral hepatitis, hepatic sinusoidal congestion, haemosiderosis and cholestasis, are all conditions which may eventually evolve into liver disease. Sickle cell disease is a heterogeneous group of disorders that is usually associated with an autosomal recessive structural haemoglobin disorder. Biochemical abnormalities have been associated with SCD and it is usually more pronounced in vaso occlusive crises; an acute bone crisis and common painful complication of SCD, than in steady state. Aim: The aim of the study was to assess some biochemicalparameters in relation to SCD patients in our environment with a view to improving the monitoring and management of these patients. Methodology: The study was a comparative hospital based research carried out at the University of Calabar Teaching Hospital (UCTH), Calabar, South-South Nigeria. Liver function tests were carried out on 60 SCA both in steady state and in crisis and also on 50 apparently healthy adults. The data collected were analyzed using statistical data for social sciences (SPSS) Version 22 for windows. Pearson linear correlation and simple inferential statistical methods were employed for data analysis, a P ≤ 0.05 was considered to be statistically significant. Result: The serum concentrations of AST, ALT, ALP, LDH, Total and conjugated bilirubin were seen to be elevated in VOC compared to in steady state and with the apparently healthy control group. The AST/ALT ratio was also observed to be elevated in VOC as compared with the steady state and the control. Significant product moment correlation was observed in the biochemical parameters both in steady state and in VOC.Conclusion: The findings of this study revealed marked changes in the biochemical parameters of the liver in VOC than in steady state. It will be recommended that routine evaluation and proper interpretation of liver enzymes is paramount in early detection of liver pathology in SCD