Sani Awwalu

Coexistence of JAK2 and BCR-ABL mutation in patient with myeloproliferative neoplasm.

The World Health Organisation (WHO) classifies myeloproliferative neoplasm (MPN) into BCR-ABL positive chronic myeloid leukaemia (CML Ph + ) and Ph− MPN. The JAK2 V617F mutation is specific for Ph− MPN and occurs in approximately 50% of primary myelofibrosis. Earlier reports suggest that the occurrence of JAK2 and BCR-ABL mutations are mutually exclusive. However, recent reports have documented the coexistence of BCR-ABL and JAK2 mutation in the same patient mostly following treatment with tyrosine kinase inhibitors (TKIs). We thus report a 60-year-old male with atypical clinical and laboratory features of MPN and the presence of both BCR-ABL and JAK2 Mutations.

Preliminary Evaluation of a Point-of-Care Testing Device (SickleSCAN™) in Screening for Sickle Cell Disease

Abstract Sickle cell disease affects about 150,000 births annually in Nigeria. Early diagnosis is hampered by factors such as centralized and urban localization of laboratories, high cost of diagnostic equipment and inadequate skilled manpower to operate them. The need for a low-cost, portable, easy-to-use diagnostic test for sickle cell disease is critical, especially in resource-poor countries. In this study, we evaluated the performance characteristics of a novel point-of-care testing device (SickleSCAN™), and its acceptability and feasibility, as a possible screening tool for sickle cell disease. In the first phase, we assessed the performance characteristics of SickleSCAN™ by evaluating 57 subjects comprising both children and adults attending a primary health center, for Hb SS (βS/βS; HBB: c.20A>T), Hb SC (βS/βC; HBB: c.19G>A) and Hb AS (βA/βS) using SickleSCAN™, cellulose acetate electrophoresis (CAE) and high performance liquid chromatography (HPLC). Performance characteristics such as diagnostic sensitivity and specificity were compared to HPLC as a standard method. We subsequently undertook a second phase wherein the acceptability and feasibility of the device for sickle cell disease screening, was evaluated using semi-structured and structured questionnaires among 197 healthcare personnel and 221 subjects, respectively. Sickle cell disease was carried by 3.4% of the subjects. The diagnostic sensitivity, specificity and test efficiency of SickleSCAN™ for sickle cell disease (Hb SS and Hb SC), were 100.0, 98.2 and 98.2%, respectively. Findings from this study showed SickleSCAN™ to be a viable screening tool that can easily be applied in community-based screening for early diagnosis of sickle cell disease with little expertise and low cost.

Blood transfusion services for patients with sickle cell disease in Nigeria

BACKGROUND Safe, timely red blood cell transfusion saves lives and chronic transfusion therapy (CTT) prevents or limits morbidities such as stroke, therefore improving quality of life of patients with sickle cell disease (SCD). METHODS This questionnaire-based study assessed the ability of sickle cell centers in Nigeria to provide safe blood to patients with SCD between March and August 2014. RESULTS Out of the 73 hospitals contacted, responses were obtained from 31. Twenty four (78%) hospitals were unable to transfuse patients regularly due to blood scarcity. Packed red blood cells were available in 14 (45%), while only one provided leukocyte-depletion. Most centers assessed donor risk and screened for HIV in 30 (97%), hepatitis B in 31(100%) and hepatitis C in 27 (87%) hospitals. Extended phenotyping and alloantibody screening were not available in any center. A quarter of the hospitals could monitor iron overload, but only using serum ferritin. Access to iron chelators was limited and expensive. Seventeen (55%) tertiary hospitals offered CTT by top-up or manual exchange transfusion; previous stroke was the most common indication. CONCLUSION Current efforts of Nigerian public hospitals to provide safe blood and CTT fall short of best practice. Provision of apheresis machines, improvement of voluntary non-remunerated donor drive, screening for red cell antigens and antibodies, and availability of iron chelators would significantly improve SCD care in Nigeria.

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.

Effect of hydroxyurea on clinical and laboratory parameters of sickle cell anaemia patients in North–West Nigeria

Background Patients with sickle cell anaemia (SCA) are routinely managed with folic acid and paludrine in Nigeria. However, since the licensing of hydroxyurea (HU) by Food and Drug Administration in the USA in 1998, there has been a gradual but cautious use of HU in Nigeria, especially for SCA patients with severe disease. Aim The aim of this study was to determine the effects of HU on the frequency of hospital admissions, blood transfusion and haematological parameters among SCA patients in Zaria, Nigeria. Materials and methods This was a retrospective analytic study of patients with SCA on HU therapy at the haematology clinic of a teaching hospital in North–West Nigeria. The frequency of hospital admissions, blood units transfused per annum, haematocrit level and white blood cell (WBC) and platelet counts before and 1 year after commencing HU treatment were compared using paired sample t-test. P value lower to 0.05 was considered significant. Results In total, 18 of 689 (2.6%) registered SCA patients were on HU, and the mean age of patients was 26.5 years. The median (interquartile range) pre-HU and post-HU frequency of hospital admissions and units of blood transfused yearly were 4.5 (6) versus 1 (6) (P=0.003) and 2.5 (1) versus 0 (2) (P=0.001), respectively. Pre-HU and post-HU mean±SD haemocrit (%), WBC (×109/l) and platelet (×109/l) counts were 22.6 versus 26.6% (P<0.001), 14.8 versus 9.8 (P=0.002) and 468.3 versus 360.2 (P=0.144), respectively. Conclusion HU significantly reduced the frequency of hospital admissions and units of blood transfused with increase in haematocrit and reduction in WBC and platelet counts in patients with SCA. HU should be encouraged in patients with severe disease.

Knowledge and perception of patients with sickle-cell disease about primary care providers in Zaria, North-West Nigeria

Background: Sickle-cell disease (SCD) is a common disorder worldwide, affecting 2% of the Nigerian population. Patients with SCD require emergency care, especially during crises. However, specialists are scarce in hospitals in most towns and cities of Nigeria. Effective primary care may be life-saving where there are no specialists. Objectives: To determine the knowledge, perception, and attitude of patients with SCD toward primary care in Zaria. Materials and Methods: It was a researcher-administered questionnaire-based cross-sectional study of patients attending the adult SCD clinic of Ahmadu Bello University Teaching Hospital, Zaria. Results: There were 78 respondents including 55 (70.5%) females and 23 (29.5%) males. The median and interquartile range age of respondents was 22 (7) years. Most respondents have attained secondary (58.1%) and tertiary (35.5%) levels of education. Fifty-six (71.8%) respondents have visited a primary care facility in the past. While 24/76 (31.6%) respondents felt that the nonspecialist doctor was the major primary care provider, 8/76 (10.5%) each felt that the community health officer and the chemists were the primary care providers. Bone pain (26, 66.7%) was the main reason for seeking primary care. However, 8 (14.3%) respondents felt that services were poor and 4 (7.1%) felt that services were excellent at primary care centers. Conclusion: SCD patients have a fair understanding of primary care; however, there is low patronage and poor perception about the quality of care provided by the primary care providers.

Correlates and predictors of frequency of blood transfusions among sickle cell anemia patients in a Tertiary hospital in Nigeria

Context: Blood transfusion is a central modality in the management of sickle cell anemia (SCA) patients. However, blood remains relatively scarce and the provision of safe, adequate, and timely transfusion services is still a challenge in Nigeria. Aims: To determine correlates and predictors of frequency of blood transfusions in SCA patients. Settings and Design: A cross-sectional, descriptive study was conducted. Convenience sampling technique was used to recruit 51 SCA patients attending the sickle cell clinic of ABUTH, Zaria Nigeria. Subjects and Methods: Age, sex, hematocrit, reticulocyte percentage, and 12-month recall of number of blood transfusions, pain episodes, and hospital admissions were assessed. Data were analyzed using SPSS version 20.0. Statistical Analysis Used: Results were summarized as median (interquartile range [IQR]) or mean ± standard deviation (SD). Spearman correlation and multiple regression analyses were carried out. Level of significance was set at P < 0.05. Results: Out of the 51 participants, 40 (78.43%) were females. The median (IQR) for age, number of pain episodes, number of hospital admissions, number of blood transfusions, and reticulocyte percentage was 23.00 (9.00) years, 2.00 (5.00), 0.00 (1.00), 0.00 (1.00), 8.60% (3.10%), respectively. Mean ± SD for hematocrit was 0.23 ± 3.41 L/L. Using frequency of blood transfusions as a reference, Spearman correlation analyses were performed for age (ρ = -0.206, P = 0.148), pain episodes (ρ = 0.270, P = 0.055), hospital admissions (ρ = 0.373, P = 0.007), hematocrit (ρ = 0.055, P = 0.704), and reticulocyte percentage (ρ = -0.122, P = 0.395). Backward multiple regression model to predict frequency of blood transfusions produced: F (2, 48) = 11.780, P < 0.001, adjusted R2 = 0.301. Only number of hospital admissions added statistically significant to the prediction (β = 0.542, P ≤ 0.001). Conclusions: Number of hospital admissions predicted frequency of blood transfusions in SCA patients in this study.

Variations in the β-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 β-globin gene itself, the β-globin gene cluster or elsewhere in the genome. Aim: To characterize the β-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 β-globin gene DNA sequencing was done. The sequences obtained were compared with a Genbank Reference β-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 β-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 β-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.