Ezenwosu O U, Chukwu B F, Ikefuna A N, Hunt A T, Keane J, Emodi I J, Ezeanolue E E
Department of Pediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria.
Department of Pediatrics, University of Nevada School of Medicine, 2040 W. Charleston Blvd. Suite 402, Las Vegas, NV, 89102, USA.
J Community Genet. 2015 Oct;6(4):369-74. doi: 10.1007/s12687-015-0225-5. Epub 2015 Apr 14.
Sickle cell trait (SCT; HbAS), the heterozygous state for the sickle cell allele of the beta globin gene, is carried by as many as 100 million individuals worldwide. Nigeria has the highest prevalence of SCT, impacting an estimated 25 % of adult population. This study was designed to assess timing of awareness, knowledge of SCT status and preferred method of education among parents of children with sickle cell disease (SCD). We conducted a cross-sectional survey of parents of children with SCD from June 2013-March 2014. Participants completed a 20-item questionnaire to assess (1) awareness of personal sickle cell genotype, (2) timing of awareness of personal sickle cell genotype, and (3) knowledge of SCT. One hundred and fifty-five participants completed the survey. Seventy-eight percent were females, and 87 % (135/155) were aware of their own sickle cell genotype. Timing of awareness varied as follows: following birth of a child with sickle cell disease (45 %); during marriage (21.5 %); school admission (9.6 %); during pregnancy (9.6 %); and other times (14 %). Approximately 35.5 % of participants thought that sickle cell trait was a mild form of sickle cell disease. Radio (43.9 %), informational community meetings (27.7 %), and television (21.9 %) were identified by participants as the most effective method of increasing sickle cell trait awareness. Innovative approaches are needed to increase the proportion of individuals who are aware of their own sickle cell genotype prior to having a child with sickle cell anemia in line with the Healthy People 2020 objective.
镰状细胞性状（SCT；HbAS）是β珠蛋白基因镰状细胞等位基因的杂合状态，全球约有1亿人携带该性状。尼日利亚的SCT患病率最高，估计影响25%的成年人口。本研究旨在评估镰状细胞病（SCD）患儿家长对自身SCT状态的知晓时间、相关知识以及偏好的教育方式。我们于2013年6月至2014年3月对SCD患儿的家长进行了一项横断面调查。参与者完成了一份包含20个条目的问卷，以评估：（1）对个人镰状细胞基因型的知晓情况；（2）知晓个人镰状细胞基因型的时间；（3）对SCT的了解程度。155名参与者完成了调查。其中78%为女性，87%（135/155）知晓自己的镰状细胞基因型。知晓时间分布如下：在患有镰状细胞病的孩子出生后（45%）；结婚期间（21.5%）；入学时（9.6%）；怀孕期间（9.6%）；以及其他时间（14%）。约35.5%的参与者认为镰状细胞性状是镰状细胞病的一种轻度形式。参与者认为广播（43.9%）、社区信息会议（27.7%）和电视（21.9%）是提高镰状细胞性状知晓率最有效的方式。需要采用创新方法，以提高在生育患有镰状细胞贫血的孩子之前就知晓自己镰状细胞基因型的个体比例，这符合《健康人民2020》的目标。
