Incidence Of Sickle Cell Anemia Research Articles

A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).

Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the β-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs. These complications can be life-threatening and require early diagnosis and management. The most important interventions recommend an early diagnosis of SCD to ensure that affected newborns receive immediate care to reduce mortality and morbidity. The newborn screening program in the region of Murcia for SCD began in March 2016. We aimed to determine the incidence of sickle cell anemia and other structural hemoglobinopathies in the neonatal population of the region of Murcia, an area of high migratory stress, and to systematically assess the benefit of newborn screening for SCD, leading to earlier treatment, as well as to offer genetic counseling to all carriers. The prevalence of SCD in our region is similar to others in Spain, except for Catalonia and Madrid. The newborns with confirmed diagnoses of SCD received early attention, and all the carriers received genetic counseling.

Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.

Background: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to determine the dose needed for clinical improvement in patients. Methods: In a prospective study, patients received an initial dose of 15mg/kg/day which was increased by 5mg/kg every 6 months, up to a maximum of 30mg/kg/day. The response and side effects to HU were evaluated biologically and clinically every 3 months during a 2-year period. Results: Seventy adult patients with a moderate or severe clinical phenotype initiated treatment. Only minor side effects were reported. At the end of the 2-year treatment phase, 45 (64.3%) had dropped out, of whom 33 were without a clear reason. Clinical and biological improvement was more marked during the first year. There was a reduction in severe vaso-occlusive crises (p<0.001), need for transfusion (p<0.001), and hospitalization days (p=0.038). Fetal hemoglobin (HbF) levels increased on average 2.9 times after 12 months (p<0.001). The increase in mean corpuscular volume was greater in the first year (p<0.001) than in the second year (p=0.041). The decrease in leukocytes (p<0.001) was significant during the first year. In 70% of patients, the 20mg/kg/day dose was needed to reach the 20% HbF threshold. Conclusion: HU is effective and well tolerated. The magnitude of the response varies from one patient to another. Improvement of clinical manifestations is achieved in most patients with a relatively low dose. Effective implementation of HU treatment will require improved adherence to treatment.

Can Social Education Interventions Programs Decrease Incidence of Sickle Cell Anemia? A Success Story from Khaibar, Saudi Arabia.

Can Social Education Interventions Programs Decrease Incidence of Sickle Cell Anemia? A Success Story from Khaibar, Saudi Arabia.

PI-09: LESSONS LEARNED FROM ONE DECADE EXPERIENCE OF THE « CENTRE DE RECHERCHE ET DE LUTTE CONTRE LA DRÉPANOCYTOSE (CRLD) » IN BAMAKO, MALI.

Purpose: In 2006, WHO declared sickle cell disease (SCD) as a global public health priority and recommended the development of Reference Centers in the sub-Saharan African region where the disease affects 1 to 2% of births. In Mali, the birth rate was estimated at 714,000 per year and the incidence of sickle cell anemia (homozygous SS + S/β-thalassemia + SC), at 0.8% of live births. To begin to adress the issue of reducing the burden of the SCD in Mali, a Sickle Cell Research and Control Center was established in Bamako in 2010. This presentation, reports the experience of the first decade of operation of this Center. Materials and methods: Through the circumstances of its creation, the principle of operation and the results acquired by the Center in ten years of functioning, we make an analysis on the possible future orientations to optimize the management of sickle cell disease in sub-Saharan Africa by the Reference Centers. Results: The « Centre de Recherche et de Lutte contre la Drépanocytose (CRLD) » was established as a result of coordinated efforts by the Government of Mali, SCD patients association, and a consortium of partners led by Pierre Fabre foundation. The assigned objectives were: to support access to quality care with equity, to develop medical research on sickle cell disease, to train medical personnel on sickle cell disease, to develop education, information and communication on the disease, to promote national and international collaboration (South-South, North-South). In order to ensure an equitable access to care, the center provides treatment with no consideration of the financial status of the family. Since March 2010, when the Center began its activities, 956 patients from the first year to 10745 sickle cell patients in 2019 have been recruited and are being provided with regular follow-up and access to treatment. Sickle cell mortality assessed in 2016 was estimated at 0.035 per 100 person-years (0.040 per 100 person-years before 5 years). In terms of research, 44 research protocol have been conducted and 26 scientific papers were published. Within the framework of an university degree, the Center has trained 126 physicians from 12 French-speaking countries in East and West Africa, Madagascar and Haiti. More than 300 communications relays were trained. Conclusion: If the growing increase in patients recruitment has shown the validity of the creation of the Center with satisfactory results in the support of specific care, the results of some of its asigned objectives have remained below expectations. We propose a new approach for the management of sickle cell disease in sub-Saharan Africa that follows a pyramid-schape of healthcare services. The authors do not declare any conflict of interest

Angiopoietin-2 as a Marker of Retinopathy in Children and Adolescents With Sickle Cell Disease: Relation to Subclinical Atherosclerosis.

Angiopoietin-2 (Ang-2) is a multifaceted cytokine that functions in both angiogenesis and inflammation. A proangiogenic state has been found in adults with sickle cell disease (SCD), mainly because of elevated Ang-2 levels. We determined Ang-2 level in 40 children and adolescents with SCD compared with 40 healthy controls and assessed its relation to retinopathy as well as carotid intimamedia thickness (CIMT). Hematologic profile, serum ferritin, and serum Ang-2 were measured. CIMT was assessed using high-resolution ultrasound. Fundus examination was performed followed by fundus fluorescein angiography. Optical coherence tomography angiography (OCTA) was used to find small vascular changes not clinically manifested. Ang-2 levels and CIMT were significantly higher in SCD patients compared with controls. The incidence of nonproliferative retinopathy was 45%. SCD patients with retinopathy were older in age with a history of sickling crisis of >3 attacks per year and had a higher incidence of sickle cell anemia than sickle β-thalassemia. Ang-2 cutoff value 9000 pg/mL could significantly detect the presence of retinopathy among SCD patients with 100% sensitivity and specificity. Serum Ang-2 levels were positively correlated with HbS and CIMT. Logistic regression analysis revealed that Ang-2 and HbS significantly contribute to retinopathy among patients with SCD. Elevated Ang-2 highlights the role of angiogenesis in the pathophysiology of SCD and may be considered a promising marker for screening of patients at risk of sickle retinopathy and vascular dysfunction.

Awareness of Saudi adolescent female toward potential risk of hereditary anemia: Is compulsory premarital screening program enough? A survey-based study

BACKGROUND: Genetic red cell disorders are common in Arabic countries with a significant burden on healthcare systems. OBJECTIVES: We aimed was to assess the level of awareness of Saudi females toward potential risk of the most common inherited anemia in the region. METHODS: A cross-sectional questionnaire-based study was undertaken on 386 undergraduate students. RESULTS: The majority (60%) of participants have a poor knowledge score. The self-reported incidence of sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and thalassemia among them was 7.3%, 4.9%, and 3.4%, respectively. Even though the majority (86.8%) expressed a positive attitude toward premarital screening tests, a wrong perception was noticed as 45.1% of them believe that irrespective of the test result, marriage decision will not be changed and 38.9% will refuse to marry a person who is a carrier of inherited anemia even if she is free of same disorder. Only 47.4% will refuse to marry a carrier if she was the carrier of some genetic disorders. CONCLUSION: Inadequate knowledge and wrong perception reflect the need to raise their awareness. Mass media should be greatly encouraged. Long-term regular targeted health education campaigns should be designed for adult Saudi, thereby reducing the burden and detrimental effect of these disorders in the community.

Acute Crises and Complications of Sickle Cell Anemia Among Patients Attending a Pediatric Tertiary Unit in Kinshasa, Democratic Republic Of Congo.

In the Democratic Republic of Congo, the incidence of sickle cell anemia (SCA) is estimated to affect 30,000 to 40,000 neonates per year. However, there is paucity of data on acute clinical manifestations in sickle cell children. In these circumstances, it is difficult to develop a health care policy for an adequate management of sickle cell patients. This was a seven years’ retrospective study of children admitted with acute sickle cell crisis in the Department of Pediatrics in University Hospital of Kinshasa, Kinshasa, the Democratic Republic of Congo. A total of 108 patients were identified as having SCA. There were 56 (51%) girls and 52 (49%) boys. Median age was 10.5 years (range 1-24 years). No child was diagnosed by neonatal screening. The median age of diagnosis of sickle cell anemia was 90 months (range: 8-250 months). The median age at the first transfusion was 36 months (range 4-168). In this series, 61 (56.5%) patients were eligible for hydroxyurea. However, this treatment was only performed in 4 (6.6%) of them. Pain episodes, acute anemic crisis and severe infection represent respectively 38.2%, 34.3% and 21.9% of events. Altered sensorium and focal deficit were encountered occasionally and represented 3.4% of acute events. Acute renal manifestations, cholelithiasis and priapism were rarely reported, in this cohort. In Kinshasa, the care of patients suffering from sickle cell anemia is characterized by the delayed diagnosis and low detection of organ complications compared to reports of Western countries. This situation is due to resources deficiencies.

Validity of simple clinical and biological parameters as screening tool for sickle cell anemia for referral to tertiary center in highly resource constraints.

In the Democratic Republic of Congo, the incidence of sickle cell anemia (SCA) is estimated around 40000 neonates per year. However, it is notoriously difficult to perform conventional electrophoresis in all hospitals and laboratories, especially at peripheral levels and rural area. A panel of multiple clinical and laboratory features that would enhance sickle cell disease were assessed for the detection of the disease in highly resource-scarce settings. A prospective study was conducted in Kinshasa. Venous blood samples were drawn from each study participant in order to determine the hematologic parameters, the peripheral smears, and the hemoglobin electrophoresis. We used Cohen's κ statistic to examine the agreement of each variable and diagnosis of sickle cell disease. A total of 807 patients were screened for sickle cell disease. Among these 807 children, 36 (4.5%) were homozygous for Hb S disease. The presence of at least 8% erythroblasts (PPV: 91%, NPV: 99%, sensitivity: 83.3%, specificity: 99.6%, κ value: .86) and sickle cells (PPV:100%, NPV: 98%, sensitivity: 50%, specificity: 100%, κ value: .66) in the peripheral blood smear had an acceptable agreement for sickle cell disease. These two biological markers may guide the clinician in the decision-making to initiate the management of the children as a sickle cell patient, pending confirmation of the disease by electrophoresis techniques.

Newborn Screening Shows a High Incidence of Sickle Cell Anemia in Central India

There is limited data on the incidence of sickle cell anemia in Central India; we therefore conducted a study to estimate the incidence of this disease in Central India. Mothers who delivered a live baby at the Government Medical College, Nagpur, India were screened for the presence of the sickle cell hemoglobin {Hb S: [β6 (A3) Glu →Val, GAG >GTG]} using the solubility test within 48 hours of delivery. Infants of mothers who showed the presence of Hb S then underwent Hb analysis by high performance liquid chromatography (HPLC). A total of 8243 mothers was screened, 1178 of whom were positive. One thousand, one hundred and sixty-two infants of mothers with a positive solubility test underwent Hb analysis by HPLC; 530 infants were normal, while 536 were heterozygous for Hb S (sickle cell trait), 88 babies were homozygous for Hb S (sickle cell anemia), while another eight babies had other Hb abnormalities. The incidence of sickle cell anemia was highest in the Scheduled caste group (1:50). We concluded that the incidence of sickle cell anemia is high in central India.

Transabdominal ultrasonographic findings in children with sickle cell anemia in Sokoto, North-Western Nigeria

Background: Sickle cell anemia (SCA) is an inherited disease caused by production of abnormal hemoglobin chains within the red blood cell. In Nigeria, West Africa, the incidence of SCA is 3%. The most common abdominal manifestations include abdominal pain (mesenteric crisis), hepatomegaly, splenomegaly, autosplenomegaly, and cholelithiasis. Objective: To evaluate the abnormal transabdominal ultrasonographic (TAUS) findings in children with sickle cell anemia in Sokoto, Northwestern Nigeria. Materials and Methods: Pediatric patients with SCA attending the sickle cell clinic at the Department of Pediatrics, Usmanu Danfodiyo University Teaching Hospital Sokoto were scanned at the Radiology Department of the Hospital by transabdominal ultrasonography (TAUS) using Apogee 800 plus Ultrasound scanner with a variable frequency probes at 5-12 MHz. The patients were in their steady states. They were also screened for viral hepatitis B and C. Results: The commonest TAUS findings in this study was hepatomegaly in 70 (98.6%) patients followed by splenomegaly in 15 (21.1%), autosplenomegaly in 3 (4.2%), and gallbladder sludge in 2 (2.8%) patients. Conclusion: Transabdominal ultrasonographic imaging of patients with sickle cell anemia revealed a high prevalence of abdominal abnormalities, especially of the liver, spleen, and gallbladder.

Detección precoz neonatal de anemia falciforme y otras hemoglobinopatías en la comunidad autónoma de Madrid. Estudio piloto

To determine the incidence of sickle cell anemia and other hemoglobinopathies in the neonatal population of the Autonomous Community of Madrid and to determine the need for a screening program. The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism and congenital adrenal hyperplasia screening. All neonates born in the public and private hospitals of the Autonomous Community of Madrid were included and universal-type screening was performed. High-performance liquid chromatography (HPLC) was used to detect variant hemoglobins. The variant automated system was used to separate and identify hemoglobin F, A1c, A, S, C, A2/E and D. To confirm variant hemoglobins, specific HPLC for -thalassemia (ion exchange) and globin chains (reversed phase) with a more expanded gradient were used. A total of 29 253 specimens were screened and 98 cases of variant hemoglobins were detected. The overall incidence was 1/299. There were five cases of sickle cell disease (HbFS and HbFS(tal), with an incidence of 1/5.851, and 71 cases of sickle cell traits (1/412). These results confirm the need to include screening for sickle cell disease and other hemoglobinopathies in our neonatal program.

Incidence of Sickle Cell Haemoglobin among the Kolams of District Adilabad, Andhra Pradesh

The study deals with the incidence of sickle cell anemia among the Thotis, a primitive tribe of Andhra Pradesh. The sample comprises of 397 individuals (188 males and 209 females). Among the 12.84 ...

Diagnosis at Birth Improves Survival of Children With Sickle Cell Anemia

The increased survival of children who have sickle cell disease is primarily due to state-of-the-art improvements in general pediatric medical care with particular emphasis on the management of the infectious complications that occur. Studies reported from New York City, Los Angeles, New Haven, and Jamaica clearly demonstrate the calendar era change in survival that has occurred during the 1970s and 1980s, and the greatest improvement is found among those children who have sickle cell anemia. The accurate identification of the specific hemoglobinopathy at or near birth provided the foundation for these studies documenting infant and young child mortality. In Africa, Molineaux et al and Fleming et al reported an epidemiologic investigation subsequent to a cord blood diagnosis program initiated in Garke, Nigeria, in 1976. A total of 534 infants were screened for major hemoglobinopathies, and 11 babies with SS and 125 babies with AS were identified. Minimal medical care was available for follow-up of the children. On entry to the school program at 5 years of age, the same population from the same small rural town was restudied. Only one child of 439 was found to have sickle cell anemia but 133 were AS. The inescapable conclusion was that the African babies with SS had died during early childhood, contributing disproportionate numbers to the high infant and childhood mortality in Nigeria. Not until Dr Fleming and the investigators of the British Medical Research Council had performed a cord blood hemoglobinopathy surveillance program was the incidence of sickle cell anemia and its effect on childhood mortality in Nigeria documented.

Screening Newborns for Sickle Cell Anemia

Sir.—The report of Rubin and Rowley and the accompanying editorial concerning Hb S and HPFH in a newborn was of interest to us (Journal1979;133:1248-1250 and 1235-1236). We have recently found a similar patient in our newborn screening program. However, we take exception to the statement that acid agar electrophoresis permits differentiation of sickle cell disease from Hb S/HPFH and Hb S/β thalassemia. The agar adds nothing to the differential diagnosis. As indicated by Rubin and Rowley, differentiation requires family study and/or other methods for establishment of the genetic basis for the Hb FS phenotype. We are also confused by the final comment in the editorial about the low incidence of sickle cell anemia in patients without Hb A.

Note—Managing Sickle Cell Anemia in Zaire

This paper analyzes the long term effects of various genetic policies that could be applied at a national level in Zaire to fight sickle cell anemia: the prohibition of marriages between individuals with the sickle cell trait, increased efficacy of the medical cure of sickle cell anemia, selective birth control, and eradication of malaria. We show that combined application of the last two policies would lead to progressive disappearance of the disease. The first two policies lead to disastrous effects in the long run, since the proportion of those who have the sickle cell trait would increase from the present 25%. Due to major differences between Zaire and the United States, the results differ markedly from those of Meredith (Meredith, J. 1977. Managing the incidence of sickle cell Anemia through genetic counseling. Management Sci. 23 1261–1272.) who presented the results of a similar study in the United States in a previous article in Management Science.

Managing the Incidence of Sickle Cell Anemia Through Genetic Counseling

Genetic counseling has long held promise as a means for controlling Tay-Sachs disease, thalassemia, sickle cell anemia, and a host of other untreatable genetic illnesses. This paper reports a study to investigate the long-term viability of genetic counseling as an alternative to searching for a cure for sickle cell anemia. The paper includes consideration of the relative lack of fitness of individuals with sickle cell anemia, the effect of mutation from normal to sickle hemoglobin, and the effect of interbreeding between the black and white races as well as the result of counseling specific proportions of the population with high risk rather than counseling everyone. The results project the theoretical rate of sickle cell anemia in the U.S. black population over the next 800 years, and are viewed qualitatively rather than as firm projections due to the preliminary nature of the counseling data and the simplifying assumptions of the model. They suggest that counseling programs can play a very large role in reducing the incidence of sickle cell anemia, even in the near future.

Treatment of sickle cell anemia.

SICKLE cell anemia was described first by Herrick in 1910. 1 Since then, surveys of Negroes in the United States have revealed the incidence of the symptomless sickle cell trait to be about 9% and incidence of sickle cell anemia to be about 2.25 per thousand. 2 In the past decade sickle cell anemia has been the subject of many studies, which have contributed greatly to our understanding of many of the abnormalities that occur in the disease. Conclusions drawn from these studies form the basis for our current ideas of the pathogenesis of the disease. Since our present therapy is directed toward this aspect of the disease, the pathogenesis of sickle cell anemia will be reviewed briefly before treatment is discussed. It now seems well established that the sickling phenomenon is due to a gene which produces sickle cell anemia when it is present in the homozygous state and

Incidence of sickle cell anemia with rheumatic heart disease

<h2>Summary</h2> An attempt has been made to ascertain the incidence of sickle-cell anemiaconcomitant with rheumatic heart disease. Fifty-three autopsies have been performed at Cook County Hospital since 1929 on individuals who gave positive evidence of sickle-cell anemia. Of this group there were three patients who showed concomitant findings of rheumatic heart disease. The incidence was 5.6 per cent.