Eker İbrahim, Çevik Özdemir Hamide Nur, Yılmaz Fırat, Yeşilipek Akif, Küpesiz Alphan, Uygun Vedat, Karasu Gülsün, Tayfun Küpesiz Funda, Gürsel Orhan, Kuşkonmaz Barış, Aksoylar Serap, Visal Okur Fatma, Özek Gülcihan, Karakükcü Musa, Adaklı Aksoy Başak, Tüfekçi Özlem, Kaya Zühre, Malbora Barış, Kürekçi Ahmet Emin, Antmen Ali Bülent
Afyonkarahisar Health Sciences University Faculty of Medicine, Department of Pediatric Hematology and Oncology and Pediatric Hematopoietic Stem Cell Transplantation Unit, Afyon, Türkiye
Afyonkarahisar Health Sciences University Faculty of Medicine, Department of Nursing, Afyon, Türkiye
Turk J Haematol. 2025 Feb 28;42(1):47-55. doi: 10.4274/tjh.galenos.2025.2024.0419. Epub 2025 Jan 23.
Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major. This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings. Türkiye is a world leader in both PGD+HLA typing technology and hematopoietic stem cell transplantation (HSCT) from savior siblings born through PGD+HLA typing. This study investigated the experiences of Turkish parents who underwent successful savior sibling procedures using PGD+HLA typing and then successful HSCT from the savior sibling for the treatment of the child with thalassemia major. We aimed to understand the medical, psychological, and sociocultural dimensions of this complex process within the Turkish healthcare context.
A qualitative study was undertaken using a descriptive phenomenological approach. In-depth interviews were conducted with parents from 16 families who had successfully completed PGD+HLA matching and subsequent stem cell transplantation processes from the savior sibling to the child with thalassemia. Data were analyzed using Colaizzi’s seven-step method and MAXQDA 20.0 software.
The analysis revealed six main themes: disease stage, treatment, recovery process, social/family, support systems, and recommendations. Parents reported significant emotional challenges but demonstrated unexpected resilience. Religious and cultural factors played nuanced roles, with most parents viewing the process as compatible with their beliefs. Economic burdens, prolonged hospitalizations, and geographical access to treatment centers emerged as key challenges. Extended family support and professional healthcare guidance were identified as crucial support mechanisms.
This study highlights the complex interplay between advanced medical technologies and traditional values in Turkish society. The findings emphasize the need for comprehensive and culturally sensitive support systems and long-term follow-up for families. The results suggest the value of implementing multidisciplinary care teams and developing specialized support programs for families undergoing savior sibling procedures.
人类白细胞抗原（HLA）分型的植入前基因诊断（PGD）是治疗遗传性血液疾病，尤其是重型地中海贫血的一项重大进展。这项技术能够让健康的孩子出生，这些孩子可以作为其患病兄弟姐妹的匹配干细胞供体。土耳其在PGD+HLA分型技术以及通过PGD+HLA分型出生的救世主同胞进行造血干细胞移植（HSCT）方面均处于世界领先地位。本研究调查了土耳其父母的经历，他们通过PGD+HLA分型成功进行了救世主同胞程序，然后又成功地从救世主同胞那里进行了HSCT，用于治疗重型地中海贫血患儿。我们旨在了解土耳其医疗背景下这一复杂过程的医学、心理和社会文化层面。
采用描述性现象学方法进行定性研究。对16个家庭的父母进行了深入访谈，这些家庭已成功完成PGD+HLA匹配以及随后从救世主同胞到重型地中海贫血患儿的干细胞移植过程。使用科莱齐的七步法和MAXQDA 20.0软件对数据进行分析。
分析揭示了六个主要主题：疾病阶段、治疗、康复过程、社会/家庭、支持系统和建议。父母报告了重大的情感挑战，但表现出了意想不到的恢复力。宗教和文化因素发挥了微妙的作用，大多数父母认为这个过程与他们的信仰相符。经济负担、长时间住院以及前往治疗中心的地理便利性成为关键挑战。大家庭的支持和专业医疗指导被确定为至关重要的支持机制。
本研究突出了土耳其社会先进医疗技术与传统价值观之间的复杂相互作用。研究结果强调了为家庭建立全面且具有文化敏感性的支持系统以及长期随访的必要性。结果表明实施多学科护理团队以及为进行救世主同胞程序的家庭制定专门支持计划的价值。
