Prenatal Counseling Conundrum: Unexpectedly Mild Phenotype in a Pregnant Woman with Homozygous CD41/42(-TTCT) β-Thalassemia
γ + 25 G > A). Because her husband was also a heterozygous carrier of the same mutation, prenatal diagnosis was performed and indicated a homozygous CD41/42(-TTCT) genotype in the fetus. This marked genotype-phenotype discordance in the pregnant woman posed a significant challenge for prenatal genetic counseling. Ultimately, given the current limitations in understanding such phenotypic variations, the couple decided to terminate the pregnancy.
Authors
- Jing Guo (ORCID: https://orcid.org/0000-0001-9861-0250)
- Jialiang Huang
- Youqiong Li
- Teng Li
- Liang Liang
Institutions
- Guigang City People's Hospital (CN)
- The People's Hospital of Guangxi Zhuang Autonomous Region (CN)
Publication Details
- Journal
- Hemoglobin
- Published
- 2026-05-12
- DOI
- https://doi.org/10.1080/03630269.2026.2664191
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00