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

Hemoglobin - 1 May 2026

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

Abstract excerpt

We describe a pregnant woman with a genotype consistent with β-thalassemia major but a phenotype suggestive of the β-thalassemia trait. Routine genetic testing revealed a homozygous CD41/42(-TTCT) (HBB:c.126_129delCTTT) mutation in the β-globin gene. Hemoglobin electrophoresis showed an Hb F level of 98.9% and an Hb A2 level of 1.1%, while the complete blood count indicated an Hb concentration of 98 g/L. Pedigree...

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PMID: 42124444
DOI: 10.1080/03630269.2026.2664191

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HBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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