A Variable Clinical Presentation of Hemoglobin City of Hope.

doi:10.1111/cge.14675

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Article

A Variable Clinical Presentation of Hemoglobin City of Hope.

Clinical genetics - 1 May 2025

Brik Simon Dafna, Filon Dvora, Meiner Vardiella, Krasnov Tanya, Noy-Lotan Sharon, Dgany Orly, Gilad Oded, Goldberg Tracie, Izraeli Shai, Yacobovich Joanne, Tamary Hannah, Steinberg-Shemer Orna

Abstract excerpt

Hemoglobin City of Hope (Hb-COH), NC_000011.9(NM_000518.5):c.208G > A; NP_000509.1:p.(Gly70Ser), has rarely been described. The presentation ranges from asymptomatic heterozygosity to significant anemia in patients carrying an additional pathogenic variant in β-globin. To elucidate the clinical spectrum of Hb-COH, we analyzed 31 individuals carrying the variant, including, for the first time, homozygous...

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PMID: 39696913
DOI: 10.1111/cge.14675

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