Incidence Of Sickle Cell Disease Research Articles

Benefits of Simple Exchange Transfusion in Sickle Cell Disease (HbSS) with Vaso-Occlusive Crisis Not Responding to Standard Therapy

Sickle cell disease is an autosomal recessive genetic disease. Vaso occlusive crisis (VOC) is frequently seen in such patients. Painful VOC is usually recurrent, of variable severity due to many factors and its management poses important challenge in the clinical practice. Few patients do not respond to standard therapies and continue to suffer severe pain for prolonged period or land to serious life threatening situation. The red cell exchange by aphaeresis is presumed to be one efficient alternative in this situation which can reduce the level of HbS below 40% - 50%. However, it is costly and not available everywhere. Both circumstances are common in our state where incidence of sickle cell disease is quite high. In such situations simple red cell exchange i.e. removing 1 unit (350 ml) of blood manually (by phlebotomy) and replacement with one unit normal red cell is effective. All of our four cases of SCA with severe acute VOC, are not responding to standard therapy but responded efficiently to this simple red cell exchange transfusion. Our present observation may pave the way of one simple, affordable, and effective measure to reduce the pain of severe acute VOC not responding to standard therapy. Moderate reduction of HbS by 8% - 14% by simple red cell exchange transfusion was associated with relief of pain of acute VOC; a new observation was reported in all our 4 cases which need to be validated by larger controlled studies.

Incidence of sickle cell disease and other hemoglobin variants in 10,095 Lebanese neonates.

Hemoglobinopathies are highly prevalent diseases and impose a public health burden. Early diagnosis and treatment can ameliorate the course of these diseases and improve survival. Despite purported high incidence of hemoglobinopathies in Lebanon, there are no nationwide screening programs. In this study, newborn screening utilizing high pressure liquid chromatography was executed in all public hospitals across Lebanon between 2010 and 2013. All newborns with an abnormal hemoglobin (Hb) were offered genetic counseling and all those with disease were enrolled in comprehensive hemoglobinopathy clinics. Among newborns, 2.1% were found to have an abnormal Hb variant with sickle Hb being the most common while 0.1% were found to have sickle cell disease (SCD). The majority of those with SCD had non-Lebanese origins. The most common causes of hospitalizations in infants with SCD were acute splenic sequestration and pain crises. No bacteremia or other life threatening infections were noted. At a median follow up 14 months (follow up range 7 to 34 months), all children with disease are alive and compliant with treatment. Systematic screening for SCD and other Hb variants was shown to be feasible, cost effective, and of accurate predictive value. This program was also clinically effective because it led to the identification of babies with disease and to providing them with free early multidisciplinary care. Conclusively, a newborn screening program should be implemented across Lebanon to detect hemoglobinopathies and initiate early therapeutic and preventive strategies and genetic counseling.

Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany

Sickle cell disease (SCD) does not occur in the indigenous German population. However, with the increasing numbers of immigrants its prevalence is steadily rising. Nevertheless, robust epidemiological data is not available for Germany and, consequently, the German newborn screening (NBS) program does not include SCD. Between 1 September 2011 and 30 November 2012, an unselected cohort of 34,084 Berlin newborns was tested for SCD. The results of 14 newborns were consistent with SCD and 265 babies were identified as hemoglobin S (Hb S) carriers. These data indicate a 95% probability that the incidence of SCD in Berlin is at least 2.5/10,000.

Newborn screening for sickle cell disease: technical and legal aspects of a German pilot study with 38,220 participants.

Sickle cell disease (SCD) does not occur in the indigenous German population, but with the increasing number of immigrants from countries at high risk for hemoglobinopathies, the question emerges whether or not a newborn screening program (NBS) for SCD disease should be initiated in Germany anyhow. We have recently shown that in Berlin, a city with a very large immigrant population, the incidence of SCD is considerable, but our findings are insufficient to make a decision for the country as a whole. In this paper we will show that a large body of epidemiological data can be generated in a relatively short period of time, with a very high degree of precision and at relatively little expense—a result that might motivate other working groups to start such a pilot project locally. We examined previously collected dried blood cards that were up to six months old, using high performance liquid chromatography (HPLC) as first method and capillary electrophoresis (CE) as second method. A single, part-time laboratory technician processed 38,220 samples in a period of 162 working days. The total costs per sample including all incidentals (as well as labor costs) were EUR 1.44.

Conceptual Framework for Quality Care among Clients with Sickle Cell Disease through Nurse-Led Information Desk

Sickle cell disease (SCD) is an inherited disease caused by an abnormal type of haemoglobin. It is one of the most common genetic blood disorders in the Gulf region, including Oman. The disease progresses through remissions and exacerbations and its intensity ranges from intense pain episodes to multi-system failure requiring admissions in the intensive care units (ICU). Many of these patients require frequent contact with the healthcare system and often find it difficult, or even impossible, to coordinate with all the required supportive services (physiotherapist, occupational therapist, dietician, etc) without assistance. Nurses are uniquely qualified to assume the responsibility of patient care coordination. The needs of SCD patients are diverse and comprises of pain management, transfusion & chelation therapy compliance, preventive of primary care issues and education. A Nurse-led information desk will serve as a useful vehicle in disseminating and modulating these issues. This store house of information aims at improving the Quality of Life among the SCD patients and also envisions at reducing the incidence of SCD in Oman. This paper conceptualizes the Nurse-led information and highlights the significance of such a structure in helping patients and their families manage the daily needs of living with a chronic disease. The conclusion emphasizes on the urgent establishment of this information desk to provide education and coordination services for the quantitative and qualitative improvement in the life-expectancy of patients with SCD in Oman. The empowering of the SCD patients and their communities will reflect in decreased re-hospitalizations and cost containment for the health care industry, which are the essence of quality care management.

Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity

Sickle cell disease is estimated to occur in 1:300-400 African-American births, with higher rates among immigrants from Africa and the Caribbean, and is less common among Hispanic births. This study determined sickle cell disease incidence among New York State newborns stratified by maternal race/ethnicity and nativity. Newborns with confirmed sickle cell disease born to New York State residents were identified by the New York State newborn screening program for the years 2000-2008 and matched to birth records to obtain birth and maternal information. Annual incidence rates were computed and bivariate analyses were conducted to examine associations with maternal race/ethnicity and nativity. From 2000 to 2008, 1,911 New York State newborns were diagnosed with sickle cell disease and matched to the birth certificate files. One in every 1,146 live births was diagnosed with sickle cell disease. Newborns of non-Hispanic black mothers accounted for 86% of sickle cell disease cases whereas newborns of Hispanic mothers accounted for 12% of cases. The estimated incidence was 1:230 live births for non-Hispanic black mothers, 1:2,320 births for Hispanic mothers, and 1:41,647 births for non-Hispanic white mothers. Newborns of foreign-born non-Hispanic black mothers had a twofold higher incidence of sickle cell disease than those born to US-born non-Hispanic black mothers (P < 0.001). This study provides the first US estimates of sickle cell disease incidence by maternal nativity. Women born outside the United States account for the majority of children with sickle cell disease born in New York State. Such findings identify at-risk populations and inform outreach activities that promote ongoing, high-quality medical management to affected children.

Morbidity and pregnancy outcomes associated with sickle cell anemia among Saudi women

ObjectiveTo identify morbidity and pregnancy outcomes associated with sickle cell disease (SCD) among pregnant Saudi women. MethodsA 10-year retrospective study was conducted at King Khalid University Hospital in Riyadh, Saudi Arabia, that included 392 cases of SCD in pregnancy and 784 controls with normal hemoglobin phenotype, who were selected and matched for age, parity, and delivery outcome. The main outcome measures were morbidity, maternal outcomes, and fetal outcomes. ResultsThe incidence of SCD was 1.1% among all deliveries, with 2 maternal deaths (0.5%) and a perinatal mortality rate of 77.7 per 1000 deliveries. The major maternal complications in the SCD group were anemia (86.2%); sickle cell crisis (64.8% overall, with 43.1% vaso-occlusive, 21.2% hemolytic, and 0.5% sequestration or aplastic); bacterial infection (8.8%); preterm delivery (15.3%); and pre-eclampsia (9.7%). Fetal growth restriction and stillbirths accounted for 65.6% of the perinatal mortality. Blood transfusion was indicated in 33.7% of pregnancies in the SCD group. ConclusionPregnant Saudi women with SCD are at increased risk for pregnancy-related complications, as well as fetal morbidity and mortality. A critical need exists among Saudi hospitals for a multidisciplinary approach to the management of pregnancies complicated by SCD.

Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

The burden of sickle cell disease in Cape Town

South Africa has a low incidence of sickle cell disease (SCD). However, its demographics are changing because of immigration from sub-Saharan African countries where SCD is prevalent. We aimed to determine the frequency of SCD presenting to the Haematology/Oncology Service at Red Cross War Memorial Children's Hospital in Cape Town and to measure the associated disease burden. This was a retrospective cross-sectional study of patients first attending the Haematology Service between January 2001 and June 2010. A total of 58 SCD patients were identified, with an annual frequency that increased over the study period by 300 - 400%. Up to 93.1% (n=54) were originally from other African countries, mainly the Democratic Republic of Congo (62.1%, n=36). One patient had sickle D-Punjab genotype, and all the other patients had the homozygous sickle cell anaemia genotype (Hb SS). Their haematological parameters demonstrated a normocytic anaemia with high white cell counts. The mean number of clinic visits per patient per year was 22.2 (range 0 - 64), and the mean number of hospital admissions per patient per year was 1.2 (range 0 - 5). All the patients were on antibiotic prophylaxis. The majority had at least one blood transfusion (65.5%, n=38), and a significant proportion required intravenous analgesia on admission (29.3%, n=17) and hydroxyurea treatment (36.2%, n=21). Over the past 10 years the frequency of SCD has increased considerably, imposing a significant burden and new challenges to the health services in Cape Town.

Laser Tweezers Raman Spectroscopy As a Novel Red Blood Cell Functional Assay for Sickle Cell Disease

Abstract 4847The number of individuals with sickle cell disease (SCD) in the U.S. is estimated to be over 70,000, and the average life span of a SCD patient is 39 years. Despite the high incidence of SCD in the U.S. and its significant negative effects on patient health, there are currently only limited treatment options for this disease. Also, although a single mutation in the globin gene is known to cause SCD, there is significant clinical diversity. As technology advances, many studies, including genome-wide analyses and proteomics, have been conducted to understand the disease mechanism and find better treatments. However, none has yet led to the development of novel therapies. We need a practical approach to study red blood cells (RBCs) to increase our knowledge of this heterogeneous disease.Laser tweezers Raman spectroscopy (LTRS) is a label-free, laser-based method for the biochemical analysis of single living cells. Based on the phenomenon of inelastic light scattering of photons by molecular bonds, Raman spectroscopy can provide detailed information, in the form of a Raman spectrum, about the molecular structure and conformations inside single living cells. Moreover, the integration of laser tweezers enables 1) simple, convenient analysis of single suspension cells such as RBCs and 2) a method to impart a mechanical force on a cell (via the optical forces) and simultaneously monitor the biochemical response of that cell to the applied force. Previous studies using optical tweezers have shown different RBC elasticity between samples from SCD patients treated with hydroxyurea and those that were not treated with hydroxyurea. Raman spectroscopy has been applied to both normal and pathological RBCs in previous studies, but the results were limited to the identification of characteristic signatures. Our integration of the two methods, Raman spectroscopy and laser tweezers, is a new biophotonic approach for studying the intricate relationship between the biochemical and mechanical properties of a single cell that was not previously possible and is not easily carried out with existing methods. As such, we believe that this recent emerging single cell-based technology can be developed and used as an RBC functional assay.We have previously shown that LTRS can detect a force dependent oxygenation state transition in individual RBCs trapped at different laser powers, presumably due to the optical forces stretching the cell and inducing changes in the hemoglobin-hemoglobin and hemoglobin-membrane interactions that change the oxygen content of the cell. We have also shown characteristic Raman signatures indicating different oxygen content in different RBC samples at specific applied forces. Signatures were different among RBCs from cord, normal adult, and SCD patient blood, suggesting laser tweezers Raman spectroscopy can be used to measure the different force dependent oxygen content in a single RBC. We are currently validating our system to determine whether Raman spectroscopy can be used to identify and distinguish gene-corrected RBCs from normal and sickle RBCs. Our preliminary results showed distinct Raman fingerprints associated with the membrane structure of RBCs. Spectral fingerprints were observed to be different between normal and sickle RBCs, and gene-corrected RBCs were observed to have Raman profiles similar to those of normal RBCs. We speculate that the signature overlap between normal and gene-corrected samples is due to partial gene correction. These results are encouraging and strongly suggest that Raman spectroscopy can not only identify molecular structures but also be used as a functional assay. Disclosures:No relevant conflicts of interest to declare.

Changing Pattern of Hospital Admissions of Children With Sickle Cell Disease Over the Last 50 Years

A study published in 1981 examined the causes of hospital admission for a cohort of children with sickle cell disease (SCD). Since that time, the incidence and prevalence of SCD has increased markedly in the UK, and there have been many changes in the management of this disease. We undertook a study examining the causes of hospital admission of children with SCD to the same hospital as the previous study, over the 2-year period from 2008 to 2009. We found that the numbers of children being cared for by our hospital had dramatically increased over the last 50 years, but rates of hospital admission had significantly fallen (41 hospital admissions per 100 patient-years, compared with 111.3 admissions per 100 patient-years in the original study). This fall in admission rates is accounted for by 2 major components: acute painful episodes (15.7 admissions per 100 patient-years compared with 39.3 in the previous study) and admission for elective blood transfusion (0.2 admissions per 100 patient-years compared with 26.7 in the previous study). It is interesting to note that, 541 elective transfusions were carried out during the study period, but in a day-care setting rather than requiring overnight admission. This study illustrates the changes in management of SCD over the past 30 years, and reflects the overall trend common to most hospital specialties of increasing community and ambulatory care.

Pediatric sickle cell retinopathy: Correlation with clinical factors

Sickle cell disease (SCD) occurs in 1 of every 500 African American births and 1 of every 36,000 Hispanic American births. Of children with SCD, 16.7% to 96.3% develop sickle retinopathy (SR). This study was designed to determine whether certain factors are associated with SR and whether SR is correlated with a greater incidence of other SCD manifestations. A retrospective analysis was performed of 258 children with SCD seen in the ophthalmology clinic at a large urban children's hospital. Of these, 54 children with SR were matched for age and sickle variant with 54 children with normal examinations. Data extracted included demographics, type of retinopathy, presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and history of acute chest syndrome, transfusions, pulmonary hypertension, renal disease, cerebrovascular accident, aplastic crisis, splenic sequestration, priapism, osteonecrosis, gallstones, pneumonia, leg ulcers, vaso-occlusive pain crises, and death. Of the children with SR, 11 (20.3%) had active proliferative disease, 32 (56.1%) had hemoglobin SS, 18 (31.6%) had hemoglobin SC, and 4 (7.0%) had hemoglobin S-beta thalassemia. Several factors were correlated with retinopathy: pain crisis (odds ratio [OR], 5.00; p=0.011), male sex (OR, 4.20, p=0.004), and splenic sequestration (OR, 4.00; p=0.013). G6PD deficiency was more common in patients with retinopathy, although this was not statistically significant (OR, 4.20; p=0.054). No other factors, including frequency of pain crisis, were statistically significant. Patients with pain crisis and splenic sequestration should be considered for early ophthalmic evaluation. Those with G6PD deficiency may also deserve early screening. By identifying patients at high risk for SR, we can refine screening protocols to safeguard patients from vision loss.

Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon

We have sought to identify signals of assimilation of African male lines in Lebanon by exploring the association of sickle cell disease (SCD) in Lebanon with Y-chromosome haplogroups that are informative of the disease origin and its exclusivity to the Muslim community. A total of 732 samples were analyzed, including 33 SCD patients from Lebanon genotyped for 28 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y chromosome. Genetic organization was identified using populations known to have influenced the genetic structure of the Lebanese population, in addition to African populations with high incidence of SCD. Y-chromosome haplogroup R-M343 sub-lineages distinguish between sub-Saharan African and Lebanese Y chromosomes. We detected a limited penetration of SCD into Lebanese R-M343 carriers, restricted to Lebanese Muslims. We suggest that this penetration brought the sickle cell gene along with the African R-M343, probably with the Saharan caravan slave trade.

Mortality and Causes of Death in Children with Sickle Cell Disease in the Netherlands.

Abstract 1519Poster Board I-542 IntroductionDespite the increasing incidence of sickle cell disease (SCD) in the Netherlands, mortality among this patient group has never been investigated. Studies on mortality in patients with SCD from the USA demonstrated that survival at the age of 20 years has improved from 79% for those born before 1975 to 89% in patients born after 1975. A recent study in the USA (2004) reflects the benefits of modern comprehensive care for SCD patients as survival increased to 94% by 18 years of age.The aim of this study was to collect information on the mortality rate and causes of death of children with SCD living in the Netherlands that were born before nationwide neonatal screening was implemented in 2007. This information is essential to provide a baseline for monitoring the effect of health care interventions, such as the introduction of nationwide neonatal screening. Causes of death may provide insight in areas where further improvement in the healthcare for SCD patients should be implemented. Patients and MethodsAll patients that were diagnosed with sickle cell disease (HbSS, HBSC, HbS-beta0, HbS-beta+) before the age of 18 years at the laboratory of the Academic Medical Center (AMC) in Amsterdam in 1985-2006 were included in the study. The AMC is one of the two large comprehensive care centers in the Netherlands, providing care to 30-40% of all Dutch SCD patients. Patients were followed from the time point of diagnosis onwards. Vital status at the end of study was determined by the last hospital visit or personal contact between January 2007 and March 2008. The causes of death were derived from hospital records. Survival estimates were obtained using the Kaplan-Meier estimator. ResultsIn this time period we identified 298 pediatric patients with SCD. Homozygous sickle cell disease (HbSS) was present in 189 (63%) patients. The total time of follow-up was 2621 patient years. Twenty four patients (8%) were lost to follow up. The median age of the patients at the end of the observation period was 14.5 years (IQR 8.7-21.0 years). Twelve patients had died and all deaths were SCD related. Stroke (3 patients; 25%) and sepsis/meningitis (3 patients; 25%) were the most common causes of death. Four children (33%) died under 3 years of age. In two of them, death coincided or occurred shortly after the diagnosis of SCD. Three patients (25%) were between 3-18 years and 5 patients (42%) were older than 18 years at the time of death.A similar proportion of patients with the HbSS and HbSC genotype died (respectively 4.2% (95% CI: 1.9-7.9%) and 4.2% (95% CI: 1.0-10.8%)). The overall mortality rate was 0.46 deaths (95% CI: 0.25-0.77) per 100 patient years. The estimated survival rate of children with SCD at the age of three years was 93% (95% CI: 87-100%). At the age of 18 the survival was 91% (95% CI: 84 -99%). DiscussionThe fact that a similar proportion of patients with the HbSS and HbSC genotype died is striking, as HbSC generally has a milder phenotype than HbSS. In the absence of a neonatal screening program, early death from severe infection may have contributed to a relatively high mortality in HbSC patients. Although the estimated survival at the age of 18 years is comparable to recent findings in a neonatally screened cohort from the USA, the mortality rate of 0.46 deaths per 100 patient years is high in comparison to the mortality rate of 0.13 per 100 patient years in an East London cohort of SCD patients. This may partly be explained by a younger age of this East London cohort (median 7.8 years). However, the benefits of a longer standing neonatal screening program within the UK is likely to contribute to the low mortality rate in the East London cohort as well.Conclusions: In children with SCD living in the Netherlands, born before nationwide neonatal screening was implemented in 2007, 91% survives until the age of 18. Infection and stroke are the most common causes of death. Further study of children with SCD born after 2007, when neonatal screening was implemented, will elucidate whether neonatal screening for SCD has improved survival in these patients. DisclosuresNo relevant conflicts of interest to declare.

The excess burden of stroke in hospitalized adults with sickle cell disease

This report compares the relative rates and risk factors associated with stroke in adults versus children with sickle cell disease (SCD) in the United States over the last decade. We identified incident strokes in patients with SCD using ICD-9 codes for acute stroke and SCD and the California Patient Discharge Databases. We estimated SCD prevalence by using the incidence of SCD at birth with adjustment for early mortality from SCD. We identified 255 acute strokes (70 primary hemorrhagic and 185 ischemic) among 69,586 hospitalizations for SCD-related complications from 1998 to 2007. The rate of stroke in children [<18 years old (310/100,000 person-years)] was similar to young adults [18-34 years old (360/100,000 person-years)], but much higher in middle-aged [35-64 years old (1,160/100,000 person-years)] and elderly adults [> or =65 years old (4,700/100,000 person-years)]. Stroke was associated with hypertension in children and hypertension, diabetes mellitus, hyperlipidemia, atrial fibrillation, and renal disease in adults. Most acute strokes (75%) and in-hospital deaths from stroke (91%) occurred in adults. Our results suggest that the rate of stroke in SCD peaks in older adults and is three-fold higher than rates previously reported in African-Americans of similar age (35-64 years) without SCD. Stroke in SCD is associated with several known adult risk factors for ischemic and hemorrhagic stroke. Studies for the primary and secondary prevention of stroke in adults with SCD are urgently needed.

Cribado neonatal de anemia falciforme en la Comunidad Autónoma Balear. Estudio piloto anónimo no relacionado

Introduction Sickle cell disease (SCD) describes a group of inherited disorders caused by the presence of the sickle haemoglobin (HbS) which results from a point mutation affecting codon 6 of the β globin chain (β codon 6, Glu 6 Val). The pathophysiology involves polymerisation of HbS under low oxygen conditions causing vaso-occlusion and chronic haemolysis and anaemia. Due to increase in immigrants within our population and the majority of this group being a risk population for different haemoglobinopathies, the aim of our study is to determine the incidence of SCD and others structural haemoglobinopathies in the neonatal population of the Balearic Islands Autonomous Community, by means of an unrelated pilot study and determine the need to include this pathology in a newborn screening program. Material and methods The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism, phenylketonuria and cystic fibrosis screening. High-performance liquid chromatography (HPLC), using the VARIANTs (Biorad) automated system, was used to detect variants haemoglobin variants. Results The overall incidence was 9.9 per 1000 specimens. The incidence of SCD was 1/6756 (FS) and the incidence of sickle cell traits was 1/199 (FAS). Conclusion These results confirm the need to include screening for SCD and other haemoglobinopathies in our neonatal screening program.

Pregnancy outcome in patients with homozygous sickle cell disease in a university hospital, Eastern Saudi Arabia

To evaluate the maternal and fetal outcome in pregnant women with sickle cell disease and to highlight the complications encountered during pregnancy and delivery at a university hospital in the Eastern Saudi Arabia. A retrospective study of 255 pregnancies in 145 patients with sickle cell disease (SCD) over an 8-year-period analyzed the perinatal complications and maternal and fetal outcomes compared with a control group of 500 Saudi females with the normal hemoglobin phenotype selected randomly that matched for age, parity and delivered during the study period. The incidence of SCD was 1.3% of all deliveries with one maternal death (0.4%) and a perinatal mortality rate of 78.2/1,000 deliveries in the series. The major maternal complications in the 255 pregnancies were anemia 84.3%, sickle cell crisis 44.3% (26.6% painful and 17.7% hemolytic crises), infection 45.9%, fetal growth restriction 20.1%, preterm delivery 12.6%, and pregnancy-induced hypertension 10.6%. Blood transfusion was necessary in 34% pregnancies. Stillbirths accounted for 63% of the perinatal mortality. Saudi women with SCD are at a greater risk of morbidity and mortality in pregnancy than previously reported, with a high perinatal mortality rate. Early booking, meticulous antenatal care and supervised hospital delivery will improve the maternal and fetal outcomes in these patients.

Neonatal haemoglobinopathy screening in Burkina Faso

Aims:To report our experience of neonatal screening for sickle cell disease in Ouagadougou (Burkina Faso) and to discuss the feasibility of neonatal screening in this country.Methods:Between the years 2000 and...

Newborn Sickle Cell Screening in a Region of Western New York State

To assess local trends in the incidence of sickle cell disease (SCD) and hemoglobin (Hb) S trait. Hemoglobinopathy clinic follow-up and cohort mortality rates were also evaluated. A longstanding newborn hemoglobinopathy screening program was reviewed. Incidence rates were computed with information from a confidential database, specialty clinic/hospital data, and local birth statistics. Over 27 years, the incidence of Hb SS in live black births was 0.163% or 1 in 615. Over 18 years, the incidence of Hb AS was 8.5% or 1 in 11.8. No significant differences in the incidence of Hb SS, Hb AS, and the S allele were found over time. Specialty clinic follow-up improved. Death before age 18 years was documented for 6 SCD cases (2.8%; mortality rate of 0.23 per 100 patient years). Local screening activities may have had an impact on participation in specialized SCD care and the disease-associated mortality rate. The incidence of Hb SS has remained unchanged over 27 years, and that of Hb S trait and the S allele has been unaffected in the last 18 years. Trait notification goals and approaches should be reevaluated.

Hydroxyurea Utilization in Nigeria, a Lesson in Public Health.

Hydroxyurea is a successful and cost effective drug therapy for sickle cell disease. Treatment with hydroxyurea is associated with a significant decrease in sickle cell complications, hospitalizations and transfusion requirements by about 50% and mortality reduction by 40% in clinical studies. The drug is unfortunately underutilized in sickle cell disease in the United States despite clear efficacy data and management experience. There is no data on the utilization of hydroxyurea in Africa, a part of the world with the highest global burden of sickle cell disease. We prospectively interviewed 206 consecutive adults and pediatric sickle cell patients as part of the Nigerian pulmonary hypertension screening study and reviewed over 1000 patients followed longitudinally at Ahmadu Bello university teaching hospital in Zaria, Nigeria. We also interviewed 10 hematologists (3 specialists and 7 hematologists in training) at the same university hospital. 65% of the 206 prospectively evaluated patients met the Multicenter Study of Hydroxyurea clinical indications for hydroxyurea treatment. No patient (zero percent) was on hydroxyurea therapy. All hematologists (100%) reported their discomfort with instituting hudroxyurea. Barriers to hydroxyurea utilization identified by practitioners included safety and toxicity profile (100%), patient compliance (100%), effective follow up (100%), drug availability (100%), affordability (100%) and specifically concern for reactivation of latent tuberculosis (50%) and carcinogenesis (100%) and teratogenicity (100%). Only 5% of patients had been informed of or were aware of hydroxyurea as a treatment option in sickle cell disease. Patient related barriers to hydroxyurea identified include lack of awareness (95%), cost (100%), availability (100%), need for frequent follow up (90%), pregnancy restrictions and need for concomitant contraceptive use (98%) and risk of infections (98%). Our study indicates the absolute lack of hydroxyurea utilization in a major health care center in Nigeria. Nigeria has the highest incidence of sickle cell disease in the world with about 150,000 children born with the disease annually. Sickle cell disease accounts for about 9 –16% of under-five mortality rates in the country. The sickle cell disease related morbidity, mortality and health systems financial burden remains very high in Nigeria and most of Africa. Local health care provider education and support and patient counseling and education are needed for the successful introduction of hydroxyurea in Nigeria. Clinical studies designed to assess the safety and efficacy of hydroxyurea in unique African settings is needed to facilitate the introduction and utilization of hydroxyurea in Nigeria and other parts of Africa.