Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences

Abstract

The Republic of Maldives (Maldives) is an island nation in the Indian Ocean with a population of 344, 023. Studies show that Maldives has one of the world's highest thalassemia carrier rates. It is estimated that 16-18 % of the Maldivians are β-thalassemia carriers, and approximately 28 new β-thal cases are recorded annually. Poor uptake of screening for the condition is one of the main reasons for this high number of new cases. The aim of this study was to explore the reasons for not testing for thalassemia in Maldives before or after marriage. Findings show that participants did not undergo carrier tests because of poor awareness and not fully knowing the devastating consequences of the condition. The outcomes of not testing were distressing for most participants. Religion played a vital role in all the decisions made by the participants before and after the birth of a β-thal child.

Change in the Health System Structure is a Way to Support Parents Having Children with Thalassemia: A Qualitative Study

“…It is obvious that the marriage of couples with thalassemia leads to the birth of a child with thalassemia. Another study stated that the screening test is the best way for preventing thalassemia, but canceling the marriage is less effective, particularly in Muslim countries (23). Researchers stated that preventive program and services were not enough for the management of patients with thalassemia (24).…”

Islamic perspectives on preconception, prenatal, and perinatal counseling

“…Though this attempt was successful in identifying at-risk couples and providing them information from a genetic counselor, nearly 90% of couples married each other despite being aware of the increased risk of their child being affected by sickle cell disease or thalassemia ( 14 ). Other Muslim-majority countries have implemented similar programs, such as Qatar, the United Arab Emirates, Bahrain, Jordan, and Maldives ( 17 – 20 ).…”

Pengenalan Thalassemia dan Konseling Genetik Pra-Nikah pada Mahasiswa

“…Alasan lain adalah tidak tahu manfaat yang bisa didapatkan dengan melakukan tes ini ataupun konsekuensi yang ditimbulkan. Alasan lain adalah yakin bukan pembawa karena tidak ada kasus dalam keluarga (Waheed, et al, 2016) Penelitian tentang persepsi skrining pranikah terkait thalassemia di Banyumas oleh De Jaka, dkk pada pasangan yang akan menikah terdapat dua kelompok dengan respon positip dan negatip. Yang positip beranggapan bahwa skrining pra nikah dilakukan untuk mengetahui risiko kelainan pada keturunannya dan mempersiapkan segala kemungkinan secara dini.…”