Bloodless management of significantly elevated transcranial Doppler velocity value in a Jehovah's witness child with sickle cell disease: A tertiary centre experience-A case report.

BACKGROUND: Effective management of complications in sickle cell disease (SCD), such as stroke prevention, often necessitates the use of blood transfusions. However, individuals who adhere to the religious tenets of Jehovah's Witnesses strictly abstain from accepting blood transfusions, thereby presenting a formidable challenge in clinical decision-making. CASE REPORT: This is a case of a 3 year old child Jehovah's Witness who was found to have significantly elevated transcranial Doppler (TCD) velocity values between 193 and 203 cm/s, following routine screening. This was an otherwise clinically stable child, whose mother was diligently ensuring he had adequate medical care. Ideally, a prophylactic exchange blood transfusion program would have been commenced immediately but was not done due to due to the lack of consent from the caregiver. Patient was initially on hydroxyurea at 15 mg/kg and self medicating on omega 3 supplements and astymin syrup. Further elevation of TCD velocity upto 242 cm/s after a repeat testing, necessitated graduated increase of the dosage of hydroxyurea to 35 mg/kg to optimize its therapeutic effect, and discontinuation of omega 3 fatty acids and replacement of astymin with folic acid, vitamin C and B complex. Following these adjustments, the TCD dropped to below 190 cm/s reducing the risk of stroke in the child. CONCLUSION: This case report demonstrates the successful implementation of a bloodless management strategy for stroke prevention in a Jehovah's Witness child with SCD. This study contributes to the existing literature by providing valuable insights and practical guidance for healthcare providers facing similar ethical and medical dilemmas.

Cerebral artery conditional blood velocity in sickle cell disease: a multicentre study and evidence for active treatment.

OBJECTIVE: To obtain multicentre data on the prevalence of normal, high or conditional (intermediate) blood velocity in the cerebral arteries among children with sickle cell disease (SCD) in Nigeria. DESIGN: A prospective observational study in five tertiary healthcare institutions. By transcranial Doppler (TCD) ultrasonography, cerebral artery peak systolic blood velocity (PSV) was determined in 193 children with SCD and time averaged mean of the maximum blood velocity (TAMMV) in a different cohort of 115 children. This design was to make the findings relevant to hospitals with TCD equipment that measure either PSV or TAMMV. SETTING: Nigeria. PARTICIPANTS: 308 children (126 girls, 182 boys; age 2-16 years). MAIN OUTCOME MEASURES: Percentage of children with SCD who have normal, high or intermediate (often termed conditional) PSV or TAMMV. RESULTS: In the cohort of 193 children, PSV was normal in 150 (77.7%), high in 7 (3.6%) and conditional in 36 (18.7%). In the cohort of 115 children, TAMMV was normal in 96 (84%), high in 7 (6%) and conditional in 12 (10%). There were no significant differences in gender or age distribution between the PSV and TAMMV cohorts. Altogether, cerebral artery blood velocity was normal in 246/308 children (80%), high in 14 (4.5%) and conditional in 48 (15.5%). CONCLUSION: Since conditional blood velocity in cerebral arteries can progress to high values and predispose to stroke, the proportion of children with SCD who are affected (15.5%) raises the question of whether regular monitoring and proactive intervention ought to be the standard of care.

Thromboprophylaxis Reduced Venous Thromboembolism in Sickle Cell Patients with Central Venous Access Devices: A Retrospective Cohort Study.

Sickle cell disease (SCD) induces a chronic prothrombotic state. Central venous access devices (CVADs) are commonly used for chronic transfusions and iron chelation in this population. CVADs are an additional venous thromboembolism (VTE) risk factor. The role of thromboprophylaxis in this setting is uncertain. The objectives are: (1) to determine whether thromboprophylaxis reduces VTE risk in SCD patients with CVAD and (2) to explore characteristics associated with VTE risk. We identified adults with SCD and CVAD intended for chronic use (≥3 months) at two comprehensive SCD centers. Thromboprophylaxis presence; type; intensity; and patient-, catheter-, and treatment-related VTE risk factors were recorded. Among 949 patients, 49 had a CVAD (25 without and 24 with VTE prophylaxis). Thromboprophylaxis type and intensity varied widely. Patients without thromboprophylaxis had higher VTE rates (rate ratio (RR) = 4.0 (95% confidence interval: 1.2−12.6), p = 0.02). Hydroxyurea was associated with lower VTE rates (RR = 20.5 (6.4−65.3), p < 0.001). PICC lines and Vortex and Xcela Power implantable devices were associated with higher rates compared with Port-a-Cath (RR = 5.8 (1.3−25.9), p = 0.02, and RR = 58.2 (15.0−225.0), p < 0.001, respectively). Thromboprophylaxis, hydroxyurea, and CVAD subtype were independently associated with VTE. The potentially protective role of thromboprophylaxis and hydroxyurea for VTE prevention in patients with SCD and CVAD merits further exploration.

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [ß85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].

We report the case of a 61-year-old Canadian male of Maltese descent investigated for unexplained polycythemia. Decreased p50 suggested the presence of a high oxygen affinity hemoglobin (Hb) variant. Molecular genetic testing demonstrated that he carries a novel missense mutation (HBB: c.258T>G), resulting in a Phe→Leu substitution at position 85 of the ß chain. The novel Hb variant has been designated Hb Kennisis in recognition of where the proband resides. Two other missense mutations have been reported at this position [Hb Bryn Mawr or Hb Buenos Aires, ß85(F1)Phe→Ser (HBB: c.257T>C); Hb Grantham, ß85(F1)Phe→Cys; (HBB: c.257T>G)], both of which have increased oxygen affinity.

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria.

Background Sickle cell disease (SCD) is a major genetic disease that manifests early in life and may lead to significant morbidities. One of the health care services that have been effective in reducing the burden of SCD in developed countries is newborn screening (NBS) followed by pneumococcal vaccines, penicillin prophylaxis, and hydroxyurea treatment. Yet, in sub-Saharan African countries, where about 75% of annual affected babies worldwide are born, NBS programmes are largely unavailable. It is not clear whether this is due to technical challenges associated with setting up such programmes, or significant cultural and social barriers to its acceptance in such settings. Objective Our aim was to ascertain the attitudes to and acceptability of NBS in Nigeria among various socio-demographic groups including health professionals, undergraduate students, parents of children with SCD and SCD patients. Methods Data on socio-demographic characteristics, knowledge of SCD and attitude towards NBS were collected using a semi-structured pre-tested questionnaire from April to July 2014 across 15 health institutions and university campuses in Nigeria. Data were collected from 1,301 respondents across Nigeria. Results There was good knowledge of SCD as an inherited blood disorder. Although 86% of respondents (n = 1,119) supported NBS, there was a statistically significant relationship between support for NBS and age (p = 003), educational status (p = 000) and religion (p = 000). Conclusion This study suggests that there is a good acceptability of NBS across Nigeria. The main barriers to its use are likely to be financial and practical, rather than social or cultural.

comparative study of carbohydrate antigen 19-9 in sickle cell disease subjects and controls in Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.

BACKGROUND: Sickle cell disease is characterized by chronic complications that affect almost all body organs. Pancreatic disease is rare in SCD. CA 19-9 is a non-specific surrogate marker for pancreatic disease especially carcinoma. CA 19-9 levels have not been evaluated in SCD patients in our environment. OBJECTIVES: The study aimed to compare the levels of CA 19-9 in homozygous sickle cell disease subjects in steady state with those of (Hb AS) and normal healthy subjects (Hb AA). METHOD: Seventy nine subjects including 39 Hb SS, 19 Hb AS and 21 Hb AA subjects were recruited in a cross-sectional study in Nnamdi Azikiwe University and Teaching Hospital. Haemoglobin genotype and CA 19-9 estimation were done using Hb electrophoresis and enzyme linked immunosorbent assay respectively. Data was analyzed with IBM SPSS 21. P value was set at 0.05. RESULT: The mean CA 19-9 (U/ml) level in Hb SS, Hb AS and Hb AA were 13.6 ± 7.6, 15.3 ± 9.9, and 20.0 ± 15.9 respectively. [Reference value <37U/ml] CA 19-9 was significantly lower in Hb SS compared to Hb AA subjects (p = 0.035). CONCLUSION: Low levels of CA 19-9 in Hb SS may suggest reduced pancreatic disorders in SCA.

Knowledge and attitude of donating and using cord blood for transfusion among patients attending Nnamdi Azikiwe University Teaching Hospital, Nnewi, South East Nigeria.

BACKGROUND: Allogeneic blood for transfusion is in short supply in most parts of the developing world. Cord blood for transfusion can be a significant source of blood supply to our health institutions. AIMS: This study aims to investigate the knowledge and attitude to the donation and use of umbilical cord blood (UCB) for transfusion among the patients receiving services in a tertiary health institution in South-East Nigeria. MATERIALS AND METHODS: This was a cross-sectional study; an anonymous structured questionnaire was used. A total of 549 consenting patients randomly selected from the antenatal, postnatal, sickle cell clinics, and wards were the subjects. Statistical analysis of the data was done using SPSS version 20.0. RESULTS: The mean age of the participants was 31.9 ± 9.5 years. The majority were females (77.2%), married (86.4%). About 26.2% of the respondents were willing to accept UCB for transfusion to them or their child. Following counseling, the acceptance rate increased to 71.5%. Most of the respondents (80.0%) were willing to donate the UCB of their baby; or be tested for HIV (93.3%), if necessary. Educational level was significantly associated with knowledge of UCB. After logistic regression, occupation, and gender were significantly associated with acceptance of UCB for transfusion. Up to 52% belonged to low income family background, approximately 150 US dollars monthly family income (50,000 naira). CONCLUSION: The knowledge and acceptance of UCB for transfusion are low in our environment. However, proper counseling and public enlightenment could change this attitude.

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

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 (ßS/ßS; HBB: c.20A>T), Hb SC (ßS/ßC; HBB: c.19G>A) and Hb AS (ßA/ßS) 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 safety; current status and challenges in Nigeria.

The attainment of blood transfusion safety in Nigeria (and probably the rest of Sub-Saharan Africa) remains an uphill task due to a number of factors, ranging from shortage of blood, poor implementation of blood transfusion guidelines, infrastructural deficits to high prevalence of transfusion-transmissible infections (TTIs), particularly hepatitis and human immune deficiency viruses. We reviewed available data on blood transfusion practices and safety in Nigeria using the PubMed, PubMed Central, Google Scholar, and African Index Medicus search engines, through a combination of word and phrases relevant to the subject. The World Health Organization has been in the forefront of efforts to establish safe, available, and affordable blood transfusion services in most parts of Africa through encouraging adequate blood donor recruitment, donor blood testing, and collection as well developing strategies for the rational use of blood. Even though modest improvement has been recorded, particularly with regards to donor blood screening for common TTIs, considerable efforts are needed in the form of robust public enlightenment campaigns (on blood donation) and continuous system improvement to drive the current transfusion practices in the country toward safety and self-sustenance.

Effect of automated red cell exchanges on oxygen saturation on-air, blood parameters and length of hospitalization in sickle cell disease patients with acute chest syndrome.

BACKGROUND: Red cell exchanges (RCEs) lead to improvement in tissue oxygenation and reduction in inflammatory markers in sickle cell disease (SCD) patients who present with acute chest syndrome (ACS). The aim of this study is to evaluate the effects of automated-RCE (auto-RCE) on oxygen saturation (SpO2) on-air, blood counts, the time to correct the parameters and length of hospitalization after the exchange in SCD patients presenting with ACS. SUBJECTS AND METHODS: This was 2 years study involving five SCD patients; the time for SpO2 on air to increase to ≥95% and chest symptoms to resolve, postprocedure, as well as the length of in-patient hospitalization was recorded. All data were entered into Statistical Package for Social Sciences Version 20.0 (SPSS Inc., Chicago, IL, USA) computer software for analyses. RESULTS: The study involved 4 (80%) hemoglobin (Hb) SS and 1 (20%) HbSC patients. The median time of SpO2 recovery was 24 h, ranging from 6 to 96 h. About 60% (3/5) of patients achieved optimal SpO2 within 24 h post-RCE, while discharge from intensive care unit was 24 h after auto-RCE in one patient. The Hb concentration was significantly higher, while the total white cell and absolute neutrophil counts were significantly lower at the time of resolution of symptoms, compared to before auto-RCE (P < 0.05). The average post auto-red cell transfusion symptoms duration was 105.6 (24-240) h while mean inpatient stay was 244.8 (144-456) h. CONCLUSION: Auto-RCE could reverse hypoxia in ACS within 24 h.

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.

Blood pressure indices and disease severity in patients with sickle cell anaemia.

Background: Individuals with sickle cell anaemia (SCA) have lower systemic blood pressures compared to individuals with haemoglobin Hb AA phenotype. Objective: Seventy-nine (79) individuals with SCA (subjects) in steady state and 50 age-matched individuals with Hb AA (controls) were prospectively studied. Height, blood pressure (BP), weight, creatinine clearance (by 24-hour urine collection), full blood count (FBC) and reticulocyte count were obtained from all subjects and controls. Body mass index (BMI), corrected reticulocyte count, mean arterial pressure (MAP) and pulse pressure (PP) were calculated using standard protocols.The frequency of vaso-occlusive crises in the last one year and number of blood transfusions in the last two years were obtained from subjects. Data was analyzed using descriptive and inferential statistics and p ≤0.05 was used to define the level of statistical significance. Methodology: Seventy-nine (79) individuals with SCA (subjects) in steady state and 50 age-matched individuals with Hb AA (controls) were prospectively studied. Height, blood pressure (BP), weight, creatinine clearance (by 24-hour urine collection), full blood count (FBC) and reticulocyte count were obtained from all subjects and controls. Body mass index (BMI), corrected reticulocyte count, mean arterial pressure (MAP) and pulse pressure (PP) were calculated using standard protocols.The frequency of vaso-occlusive crises in the last one year and number of blood transfusions in the last two years were obtained from subjects. Data was analyzed using descriptive and inferential statistics and p ≤0.05 was used to define the level of statistical significance. Results: The systolic (105.52±11.75mmHg and 113.20±7.94mmHg respectively; P = 0.01), diastolic (62.59±9.33mmHg and 75.40±5.70mmHg respectively; P=0.03) and mean arterial pressures (76.90±8.81mmHg and 88.00±5.51mmHg respectively; P =0.04) were significantly lower in subjects when compared with controls. ; pulse pressure (PP) was however significantly higher in subjects than controls (42.92±10.91mmHg and 37.80±7.43mmHg respectively (P = 0.03). In female subjects, the white cell count was negatively correlated with systolic BP (r = -0.39;P = 0.01) and PP (r = -0.33; P = 0.03). Conclusion: Lower systolic and pulse pressures may predict worsening disease severity in individuals with sickle cell anaemia.

HEMATOLOGICAL INDICES IN AUTOMOTIVE TECHNICIANS IN NNEWI, SOUTH-EAST NIGERIA.

BACKGROUND: Occupational exposure to petroleum products is known to be associated with a number of health risks as well as adverse effects on haematological indices. OBJECTIVE: To evaluate the effect of exposure to petroleum products on haematological parameters in automobile mechanics in Nnewi, south-east Nigeria. SUBJECTS AND METHODS: Fifty (50) automobile technicians and 50 healthy controls participated in the study. Full blood count was performed for each participant using the automated Sysmex haemocytometer (Model PCE 210) while data analysis was done using the SPSS (statistical package for social sciences) version 16 computer soft ware (Chicago, IL, Inc.). Results were expressed as frequencies, means and standard deviations; comparison of haematological parameters was made between subjects and controls and at different durations of exposure using the students' t-test and analysis of variance (ANOVA), respectively. The level of statistical significance was p < 0.05 (at 95% CI). Ethical approval was obtained from the Institutional review board and all participants gave informed consent. RESULTS: There red blood cell count (RBC) and haematocrit were significantly lower while the platelet count was significantly higher in test subjects compared with controls (p values; 0.04, 0.03 and 0.01, respectively). Correspondingly, the mean cell volume (MCV) and mean cell haemoglobin (MCH) were significantly lower in test subjects compared with controls (p = 0.62 and 0.03, respectively). The red cell count, MCV and platelet count significantly decreased with increasing duration of work exposure (p = 0.001, respectively). CONCLUSION: Occupational exposure to petroleum products adversely affects blood counts, with a significant decrease in RBC, MCV and platelet count as duration of exposure increases.

Multiple myeloma in Nigeria: a multi-centre epidemiological and biomedical study.

INTRODUCTION: Myelomatosis is a malignant proliferation of plasma cells in the bone marrow, with relatively high prevalence in African populations. Variation in genetic mutations has been observed in individual patients and may be responsible for differences in disease pattern and treatment outcomes. This study described the presentations and treatment outcomes of multiple myeloma in nigerian. METHODS: The data was obtained retrospectively from the case notes of 135 patients diagnosed with multiple myeloma from eight tertiary health institutions across the six geopolitical zones of Nigeria from 2005 to 2014. Data analysis was carried out using SPSS 17.0. RESULTS: The predominant presentations were bone pain in 97 (74%), nephropathy in 47 (35.9%) and pathological fractures in 58 (44.3%). Sixty-seven percent (67%) of the patients were less than 60 years, and 35% had Bence Jones proteinuria. The overall survival beyond 6 months was 91.3%, mean duration of survival rate was 7.4 months. Majority (66.2%) were on Melphalan alone or on melphalan-containing combinations. A higher packed cell volume (PCV) and total serum protein levels at presentation were associated with increased survival, p=0.033 and 0.036, respectively. CONCLUSION: This study portrayed the importance of detail investigation on the causes of bone pain and anaemia in person's aged 40 years and above. There is a high prevalence of nephropathy in this cohort of patients which needs to be further investigated. Majority of the patients, though < 65 years of age were placed on melphalan-containing combinations, which foreclosed chances of future autologous bone marrow transplantation.

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.