Norah O. Akinola

Current sickle cell disease management practices in Nigeria

BACKGROUND Although Nigeria has the highest burden of sickle cell disease (SCD) worldwide, there is still variable and poor utilisation of standard-of-care practices for SCD patients in the country. METHODS This was a questionnaire survey of doctors in some dedicated SCD clinics in Nigeria in order to document the facilities available and common management practices. RESULTS There were responses from 18 clinics based in 11 institutions. The number of patients being followed in each centre ranged from 15 to approximately 11 000. All clinics provided malaria prophylaxis and folic acid routinely to their patients. Only eight clinics prescribe penicillin prophylaxis. Eight prescribe hydroxyurea to patients who can afford it when indicated. All of the centres except three have electronic cell counters, but all had access to haemoglobin electrophoresis. Three had high-performance liquid chromatography machines installed but none was being routinely used. One institution had a functioning molecular biology laboratory. There is no official newborn screening programme in the country. All had access to microbiology and chemistry laboratories. Nine institutions had CT, six had MRI and three had transcranial Doppler facilities. CONCLUSION The care available for SCD in Nigeria is still suboptimal and there is an urgent need for concerted effort to tackle the problem, but to make a significant impact on the burden of the disease would require more focus at the primary care level. Some steps to achieving this are outlined.

Degrees of Kidney Disease in Nigerian Adults with Sickle-Cell Disease

Objective: To study degrees of chronic kidney disease (CKD) using creatinine clearance in adult Nigerian patients with sickle-cell disease (SCD). Methods: One hundred SCD patients, made up of 79 HbSS (homozygous haemoglobin S) patients and 21 HbSC (heterozygous haemoglobins S and C) patients, were investigated prospectively, along with 50 normal controls. Their sociodemographic data, weight and drug history were documented. Each participant underwent dipstick urinalysis, and creatinine clearance was calculated following a 24-hour urine collection and serum creatinine measurement. They were categorized into stages of CKD based on the creatinine clearance. Results: Of the 79 HbSS patients, 14 (18%), 28 (35%), 33 (42%) and 4 (5%) had stage 1, 2, 3 and 4 CKD, respectively. In the HbSC group, 3 (14%), 9 (43%) and 9 (43%) patients had stage 1, 2 and 3 CKD, respectively. Proteinuria was noted in 16 (20%) HbSS patients but not in any of the HbSC patients. Of the subjects aged ≤24 years (n = 49), 9 (18%), 18 (37%), 21 (43%) and 1 (2%) had stage 1, 2, 3 and 4 CKD, respectively. Of those aged >24 years (n = 51), 8 (16%), 19 (37%), 21 (41%) and 3 (6%) had stage 1, 2, 3 and 4 CKD, respectively. None of the subjects had stage 5 CKD. Conclusion: In this study, the adult subjects with SCD had various degrees of CKD. Adequate follow-up and active intervention are advocated to delay the onset of end-stage nephropathy.

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.

Chronic Myeloid Leukemia in Nigerian Patients: Anemia is an Independent Predictor of Overall Survival:

Objectives The advent of the tyrosine kinase inhibitors has markedly changed the prognostic outlook for patients with Ph+ and/or BCR-ABL1+ chronic myeloid leukemia (CML). This study was designed to assess the overall survival (OS) of Nigerian patients with CML receiving imatinib therapy and to identify the significant predictors of OS. Methods All patients with CML receiving imatinib from July 2003 to June 2013 were studied. The clinical and hematological parameters were studied. The Kaplan-Meier technique was used to estimate the OS and median survival. P-value of <0.05 was considered as statistically significant. Results The median age of all 527 patients (male/female = 320/207) was 37 (range 10-87) years. There were 472, 47, and 7 in chronic phase (CP), accelerated phase, and blastic phase, respectively. As at June 2013, 442 patients are alive. The median survival was 105.7 months (95% confidence interval [CI], 91.5-119.9); while OS at one, two, and five years were 95%, 90%, and 75%, respectively. Multivariate Cox regression analysis revealed that OS was significantly better in patients diagnosed with CP (P = 0.001, odds ratio = 1.576, 95% CI = 1.205-2.061) or not in patients with anemia (P = 0.031, odds ratio = 1.666, 95% CI = 1.047-2.649). Combining these variables yielded three prognostic groups: CP without anemia, CP with anemia, and non-CP, with significantly different median OS of 123.3, 92.0, and 74.7 months, respectively (χ2 = 22.042, P = 0.000016). Conclusion This study has clearly shown that for Nigerian patients with CML, the clinical phase of the disease at diagnosis and the hematocrit can be used to stratify patients into low, intermediate, and high risk groups.

Avascular necrosis significantly impairs quality of life in sickle cell disease

Introduction: Quality of life (QoL) assessment has become an integral component of the assessment of the holistic care of patients with chronic diseases, including sickle cell disease (SCD). Objective: To evaluate the quality of life in patients with SCD managed in our centre. Patients and Methods: Eighty consecutive patients with confirmed hemoglobin SS or SC were recruited. Age and sex-matched volunteers served as controls. Ethical approval was obtained from the Institutional Review Board and all participants gave informed consent. Information on socio-demographic, quality of life and clinical variables, including the presence of complications were recorded in a modified version of the WHO Quality of Life Brief version (WHOQOL-BREF) questionnaire. Data was analyzed using Microsoft Excel and SPSS 17 computer softwares. Descriptive statistics were used to represent socio-demographic variables while the Student t-test was used to explore relationship between the variables and the quality of life domains. Results: Significantly fewer participants with SCD are married compared to their age- and sex-matched controls (P = 0.01). Similarly, participants with SCD scored significantly lower in the physical and psychological domains as well as in overall QoL and general health domains compared to controls (P = 0.001). Avascular necrosis of the femur significantly affected the overall QoL and general health of participants with SCD, respectively while the means of the QoL assessment domains were not significantly different in participants with SCD with and without complications, except in the general health domain (P < 0.001). Conclusion: Avascular necrosis of the femoral head significantly affects overall QoL in participants with SCD.

AIDS-related lymphomas in Nigeria an emerging phenomenon

Results There were 161 cases comprising NHL, 42 (25.5%); HL, 15 (9.3%), and BL, 104, (64.6%). Seven (4.3%), aged 2-49 (median = 41) years were retroviral positive. Of these, 4 (3 males, 1 female, aged 28-49 (median = 38.5) years) had NHL, 2 (both females) HL, and 1 case, a 2-year-old boy with HIV since birth, had Burkitt’s and an HIVpositive mother. All, except one female with stage 1 HL, presented late (at least clinical stage IIIb). Three patients with NHL and 1 with late-stage HL succumbed to their disease within 1-3 weeks of hospital admission. The remaining 3 patients had been responding satisfactorily to chemotherapy (CHOP for NHL, ABVD for HL, and COM for Burkitt’s lymphoma.)

The utility of the CKD-EPI formula for determination of glomerular filtration rate in Nigerians with sickle cell disease

Background and objective Predictive formulae for the calculation of estimated glomerular filtration rate (eGFR) are increasingly being used in clinical practice for monitoring of renal function. We evaluated the usefulness of the CKD-EPI formula for eGFR in a population of Nigerian patients with sickle cell disease (SCD). Patients and methods One hundred SCD patients were prospectively studied. Relevant information, including age, weight and sex, was obtained from the participants, whereas creatinine clearance was measured following a 24-h urine collection. The Cockcroft-Gault (C-G) and the CKD-EPI formulae were thereafter used to calculate the glomerular filtration rate (GFR) for all participants. SPSS (version 17) and Microsoft Excel 2007 computer software were used for all data collection and analyses. A P-value of less than 0.05 was considered significant. Results The comparison of measured GFR versus eGFR by the C-G and CKD-EPI formulae in homozygous haemoglobin SS (HbSS) patients yielded correlation coefficients (r values) of 0.667 (P < 0.001) and 0.598 (P < 0.001), respectively. Correspondingly, among the heterozygous haemoglobin S + C (HbSC) patients, measured GFR versus eGFR resulted in r values of 0.819 (P < 0.001) and 0.848 (P < 0.001), respectively. Conclusion The CKD-EPI formula is a good measure of eGFR in our population of SCD patients; however, it did not perform significantly better than the C-G formula.

Severe iron deficiency anaemia in a 37-year-old with HBSC disease: a case report and review of literature.

Background: Iron deficiency anaemia (IDA) is not a recognised complication of sickle cell disease; it is uncommon in an adult patients. However, it could occur in children with the disease on the background of a significant nutritional deficiency. Method: Clinical note of the patient was retrieved for relevant information. The date of first contact with health facility, and subsequent follow-up clinical status was noted. The steady state blood counts, the clinical and laboratory findings at presentation of severe IDA was reviewed. Result: The patient runs a mild disease and was haemoglobin SC. The severe IDA was precipitated by ascaris lumbricoides infestation. This necessitated packed cell transfusion for the first time ever in this patient. Conclusion: There should be a high index of suspicion for worm infestations in previously untransfused SCD patients presenting with severe anaemia. The role of iron-deficient state in sickle cell disease amelioration needs further evaluation. Key words: sickle cell disease, iron deficiency, worm infestation.