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.

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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
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article

Prenatal Counseling Conundrum: Unexpectedly Mild Phenotype in a Pregnant Woman with Homozygous CD41/42(-TTCT) β-Thalassemia

Jing Guo, Jialiang Huang, Youqiong Li, Teng Li et al.
Hemoglobin
Hemoglobinopathies and Related Disorders
article

Prenatal Counseling Conundrum: Unexpectedly Mild Phenotype in a Pregnant Woman with Homozygous CD41/42(-TTCT) β-Thalassemia

Jing Guo, Jialiang Huang, Youqiong Li, Teng Li, Liang Liang
article en

Abstract

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.

Hemoglobin
Guigang City People's Hospital (CN), The People's Hospital of Guangxi Zhuang Autonomous Region (CN)
Good health and well-being
Openalex Percentile: Top 5%
Hemoglobinopathies and Related Disorders
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Prenatal Counseling Conundrum: Unexpectedly Mild Phenotype in a Pregnant Woman with Homozygous CD41/42(-TTCT) β-Thalassemia — Jing Guo, Jialiang Huang, et al. · Hemoglobin (2026) | TGRS Research Map | TGRS