Erythropoietic Response to Anaemia of Dialysis Naïve Patients with Chronic Kidney Disease in Zaria, North-West Nigeria.

INTRODUCTION: Chronic kidney disease (CKD) is a global health problem with an increasing prevalence worldwide. Anemia is one of its consistent and severe hematological complications although its mechanism is not fully elucidated. The primary defect could manifest as serum erythropoietin (sEPO) deficiency or EPO resistance. We set out to determine the erythropoietic response to anemia of patients with CKD and its relationship with their iron status in a cross-sectional descriptive study of 91 patients in various stages of CKD. Materials and Methods: Soluble transferrin receptor (sTfR), sEpo, and serum ferritin levels were determined using ELISA method (Diagnostic Automation Inc and WKEA med supplies corp.). Data generated were analyzed using Epi Info version 3.5.3 and level of statistical significance was set at ≤0.05. Results: Participants comprised of 50 females (54.9%) and 41 (45.1%) males with an overall mean age of 47 ± 15 years. The major causes of CKD were hypertension (HTN) (50.54%), diabetes mellitus (DM) (6.59%), and HTN + DM (19.78%). The mean hemoglobin (Hb) concentration of the participants was 10.97 ± 2.28 g/dl; the red cell indices were within normal ranges except for Red cell distribution width-Coefficient of variation (%) which was elevated (16.29%). The mean serum ferritin, sTfR, and sEpo were 70.58 ± 46.44 ng/ml (interquartile range [IQR] 82.00), 22.9 ± 49.7 ng/ml (IQR 15.00), and 12.49 ± 33.47 IU/L (IQR 6.00), respectively, with a high variance. Serum ferritin and sTfR are consistently low across the stages of CKD (range between 54.54 ng/ml and 88.64 ng/ml), but sEPO for stage 3 and 4 showed a 2-fold increase when compared to normal level at Hb 10.97 g/dl (29.54 IU/L and 38.83 IU/L, respectively). Correlation between sTfR and sEpo (r2 = 0.96, P = 0.001), while between sEpo and serum ferritin (r2 = 0.02, P = 0.185), and between Hb and stage of CKD undulating (r2 = 0.41, P = 0.001). CONCLUSION: In contrast to some existing literature, this study has demonstrated that EPO resistance and iron deficiency contributes to anemia in CKD and serum ferritin can be used to assess the iron level of dialysis naïve CKD patients at every stage of the disease.

Variations in the ß-globin genes of sickle cell anaemia patients in Zaria, Northwestern, Nigeria.

CONTEXT: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long disability, which is of public health importance. The diversity in its clinico-pathologic and laboratory presentations may be due to the interplay between additional genetic differences and environmental factors. The genetic factors may be within the ß-globin gene itself, the ß-globin gene cluster or elsewhere in the genome. AIM: To characterize the ß-globin gene for variations associated with the Sickle Cell mutation. SETTINGS AND DESIGN: A cross-sectional descriptive study involving 51 adult SCA patients attending Sickle Cell Clinic of Haematology Department Ahmadu Bello University (ABUTH) Zaria, Kaduna State, Nigeria. METHODS AND MATERIAL: The buccal swab specimens were collected and ß-globin gene DNA sequencing was done. The sequences obtained were compared with a Genbank Reference ß-globin gene (NC_000011.9) using Basic Local Alignment Search Tool (BLAST), and variations noted. Data generated were analyzed using SPSS Version 20.0. STATISTICAL ANALYSIS USED: Data generated was summarized by using charts, means±2SD, and 95% confidence intervals. RESULTS: There were 40 (78.43%) females and 11 (21.57%) males. The mean age of the participants was 25.35 ± 7.67 years, 95% CI (23.20, 27.51). The classic sickle cell mutation A T was present in all participants. The mean number of ß-Globin gene variations was 8.61±11.30, 95% CI (5.43, 11.78). The number of Substitutions were 122 (27.79%), insertions 184 (41.91%), and deletions 133 (30.30%). These occurred in various combinations. The mean number of substitutions, insertions, and deletions were 2.39±3.23, 3.61±7.66, and 2.60±2.46 with 95% CIs of (1.48, 3.30), (1.45, 5.76), and (1.92, 3.30) respectively. CONCLUSIONS: There are ß-globin gene variations in SCA patients in Zaria, and locally relevant genetic database of the SCA population will be the cornerstone in understanding genotype-phenotype interactions in this disorder.