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Rev Epidemiol Sante Publique ; 66(3): 181-185, 2018 May.
Article in French | MEDLINE | ID: mdl-29625861

ABSTRACT

BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive. METHODS: From 2010 to 2012, in Bamako, Mali, West Africa, 2489 newborns were routinely screened for sickle cell anemia at the umbilical cord or heel by isoelectrofocusing and, if necessary, by high-performance liquid chromatography. These newborns were born from 2420 mothers whose hemoglobin was studied by isoelectrofocusing. The data was recorded and processed using Excel software version 14.0.0. We calculated the frequency of the sickle cell gene in mothers and newborns as well as the number of SCA newborns from heterozygous or C homozygous mothers. RESULTS: Of the 2489 newborns, 16 had sickle cell anemia (6 SS and 10 SC); 198 had the sickle cell trait; 139 were AC and 1 was CC. Of the 10 newborns with SC profile, 3 were born from mothers not carrying the S gene but the C gene of hemoglobin and in which an Emmel test would have been negative. CONCLUSION: Targeted newborn screening, based on the results of sickling test in pregnant women, would misdiagnose more than one of six sickle cell anemia newborns who would not benefit from early care. Cost-effectiveness studies of routine newborn screening for sickle cell anemia should lead to a better screening strategy in contexts where hemoglobin S and other hemoglobin defect genes coexist.


Subject(s)
Anemia, Sickle Cell/diagnosis , Hematologic Tests/methods , Neonatal Screening/methods , Population Surveillance/methods , Pregnancy Complications, Hematologic/diagnosis , Prenatal Diagnosis , Adult , Africa, Western/epidemiology , Anemia, Sickle Cell/blood , Female , Hematologic Tests/standards , Hematologic Tests/statistics & numerical data , Hemoglobin, Sickle/analysis , Humans , Infant, Newborn , Limit of Detection , Male , Mali/epidemiology , Mothers , Predictive Value of Tests , Pregnancy , Pregnancy Complications, Hematologic/blood , Prenatal Diagnosis/methods , Prenatal Diagnosis/standards
2.
Rev Med Interne ; 38(9): 572-577, 2017 Sep.
Article in French | MEDLINE | ID: mdl-28237127

ABSTRACT

INTRODUCTION: Retinopathy is a chronic complication with severe functional consequences in patients with sickle cell disease. Its prevalence is not well known in sub-Saharan Africa because of the absence of screening. We report here the results of a routine screening for sickle retinopathy in a Comprehensive Sickle Cell Center in Sub-Saharan Africa. METHODS: Screening of sickle retinopathy was carried out in all sickle cell patients aged 10 and over, followed between 2010 and 2012. Retinopathy was screened by dilated indirect fundoscopic examination and retinal angiography, if necessary. The gender, age and hematological parameters of patients with sickle retinopathy were compared with those of controls randomly selected from the cohort of sickle cell patients without retinopathy followed during the same period. RESULTS: The overall prevalence of sickle cell retinopathy was 8.8% (142/1604): 12.4% (91/731) in SC, 5.2% (38/734) in SS, 9.4% (5/53) in Sß°-thalassemia patients and 9.3% (8/86) in Sß+-thalassemia patients. Proliferative retinopathy was more common in SC patients (P<0.01). High levels of hemoglobin or of hematocrit were associated with retinopathy in all patients and with proliferative retinopathy in SC patients. In SS or Sß0thalassemia patients, high leukocyte count was associated with proliferative retinopathy. Low fetal hemoglobin level was associated with retinopathy in all groups. CONCLUSION: The prevalence of sickle cell retinopathy is high and negatively associated to the level of fetal hemoglobin. The efficiency of a routine screening for sickle cell retinopathy must be assessed in Africa as well as the benefit of phlebotomy and hydroxyurea therapy as a preventive treatments.


Subject(s)
Anemia, Sickle Cell/complications , Anemia, Sickle Cell/epidemiology , Retinal Diseases/epidemiology , Retinal Diseases/etiology , Adolescent , Adult , Africa South of the Sahara/epidemiology , Female , Hospitals, Special , Humans , Male , Prevalence , Risk Factors , Young Adult
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