Premarital genetic screening and care of Tanzanian children with sickle cell disease: a qualitative study on parents' views and experiences.
Premarital genetic screening and care of Tanzanian children with sickle cell disease: a qualitative study on parents' views and experiences.
复制标题
坦桑尼亚镰状细胞病儿童的婚前基因筛查和护理：对父母观点和经验的定性研究。
DOI：
10.1007/s12687-021-00539-y
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发表时间：
2021
影响因子：
1.9
通讯作者：
Bwire,GeorgeM
中科院分区：
文献类型：
--
作者：
Kisanga,Esther;Mutagonda,Ritah;Myemba,DavidT;Njiro,BelindaJ;Simon,Franklin;Marealle,AlphonceI;Mikomangwa,WigilyaP;Kilonzi,Manase;Sambayi,Godfrey;Bwire,GeorgeM
基因检测和咨询是降低镰状细胞病（SCD）患者高出生率的方法之一。采用描述性现象学方法，通过面对面的深度访谈，探讨父母对镰状细胞性状婚前基因筛查的看法以及他们照顾坦桑尼亚 SCD 儿童的经验。该研究于2020年6月至8月在达累斯萨拉姆地区三级医院镰状细胞诊所进行。研究发现，大多数患有SCD儿童的家长在诊断出孩子的SCD状态后都了解基因检测和咨询。管理 SCD 危机的主要方法是支持性、预防性和对症治疗。由于缺乏经济支持和耻辱，父母表示在照顾方面负担很重。这些影响了孩子的护理和管理质量。总之，参与者表达了对婚前基因检测的偏好，而其他人则坚持认为这是强制性的。此外，应该有足够的诊所为 SCD 儿童提供早期筛查、可获得的治疗支持和长期随访。建议通过国家健康保障计划和免费提供羟基脲等预防药物来支持患有 SCD 的贫困家庭。
Genetic testing and counselling is one of the approaches to reduce the high birth rate of individuals with sickle cell disease (SCD). A descriptive phenomenological approach was used to explore parents’ views on premarital genetic screening for sickle cell trait and their experiences in the care of Tanzanian children with SCD using a face-to-face in-depth interview. The study was conducted at sickle cell clinic at tertiary hospital in Dar es Salaam region between June and August 2020. The study found that most of the parents with SCD children knew about genetic testing and counselling after the diagnosis of their children’s SCD status. Major approaches employed in managing SCD crises were supportive, preventive, and symptomatic. Parents expressed a heavy burden related to caretaking due to the lack of financial support and stigmatization. These affected their children’s quality of care and management. In conclusion, participants expressed a preference for premarital genetic testing, where others insisted it becomes compulsory. In addition, there should be an adequate clinic for early screening, accessible therapeutic support and long-term follow up for children with SCD. Support to poor families with individual with SCD through national health assurance scheme and free provision of preventive medications such as hydroxyurea, is recommended.