Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.

BACKGROUND: Sickle-cell anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. DNA testing can help to clarify the diagnosis when Hb electrophoresis is inconclusive. We evaluated the usefulness and feasibility of DNA-based diagnosis of SCA in rural Central Africa. METHODS: This is a cross-sectional study conducted from November 2016 to end October 2017 in the Hôpital Saint Luc de Kisantu, located 120 km from Kinshasa. This hospital offers the management of SCA patients, mainly identified using the Sickling test (Emmel test) combined with clinical features. We included patients aged 6 months to 18 years locally diagnosed as SCA, and we collected clinical and hematological data. All patients were offered Hb electrophoresis and DNA testing at the Center for Human Genetics of the University of Kinshasa. RESULTS: This study included 160 patients. Hemoglobin capillary electrophoresis suggested that 136 (85%) were homozygote SS, 13 (8.1%) were heterozygote (AS), and 11 (6.9%) were homozygote normal (AA). DNA testing confirmed these electrophoresis findings, with the exception of four patients, two AS in electrophoresis were found SS due to recent transfusion, and two SS in electrophoresis were found AS because they have compound heterozygous form S/ß°-thalassemia. The diagnosis of SCA was therefore wrongly ascertained with Emmel test in 15% of patients. CONCLUSION: This study reveals a high proportion of false-positive SCA diagnoses in a rural environment in Central Africa. This underlines the importance of DNA testing in conjunction with Hb electrophoresis.

Effectiveness of biofield therapy for individuals with sickle cell disease in Africa.

CONTEXT: Individuals with sickle cell disease (SCD) in Africa have to manage most of their painful episodes at home, mainly due to insufficient medical services. In the past, the research team had observed that some individuals with SCD had experienced symptomatic improvement after administration of biofield therapy. OBJECTIVE: The research team intended to evaluate the influence of repeated administration of biofield therapy on clinical outcomes for individuals with SCD in Africa. DESIGN: The research team designed a prospective, open label, nonrandomized, case-control study. SETTING: This study was performed at Le Centre de Médecine Mixte d'Anémie SS (CMMASS) in Kinshasa, Democratic Republic of Congo (DRC). PARTICIPANTS: Participants were individuals with SCD who received treatments at CMMASS. INTERVENTION: Twenty participants aged 3-36 y underwent Okada purifying therapy (OPT), a form of biofield therapy, every weekday for 1 y (OPT group). OPT was administered by certified practitioners approved by the MOA International Corporation. The research team also constructed an age- and gender-matched control group (n = 20) from regular patients at the clinic. OUTCOME MEASURES: Participants in both groups received blood tests at baseline, after 6 mo, and at end of the 1-y intervention period. A follow-up survey was also conducted 33 mo after the 1-y administration of OPT. RESULTS: The OPT group showed a significant improvement in its blood data, including hemoglobin, total bilirubin, alanine aminotransferase (ALT), creatinine, and white blood cell (WBC) count (P < .001). The control group had less improvement in hemoglobin (P < .001) and total bilirubin (P < .001) than the OPT group. Its creatinine level increased significantly (P < .001), and ALT and WBC count remained at the same level after 1 y. For the OPT group, SCD-related episodes, such as painful crises, blood transfusions, and hospitalizations, decreased more significantly than for the control group (P < .001). The follow-up survey revealed that those who continued using OPT regularly had remained in better condition for approximately 3 y after the intervention period than those who did not (P = .0014). CONCLUSION: Repeated administration of biofield therapy is considered effective for individuals with SCD who have various symptoms, although the care given by the practitioners may have had some influence on the clinical outcomes.