Year: 2024
Type: article
Study design: Observational Study
Abstract: ABSTRACT 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 individuals. Seven patients who were compound heterozygous for Hb‐COH and an additional variant in β‐globin, presented with mild‐to‐severe microcytic anemia and elevated hemoglobin‐A2. Three (43%) of these also had elevated fetal hemoglobin, but none required blood transfusions. Seven patients coinherited Hb‐COH with an ‐α 3.7 ‐deletion (NG_000006.1:g.34247_38050del), their presentation ranged from mild microcytic anemia to normal blood counts. Three homozygous and 14 heterozygous individuals for Hb‐COH had normal blood counts. Most Hb‐COH alleles whose origin was traceable were from Ashkenazi Jews (70.4%). To conclude, while isolated Hb‐COH appears asymptomatic even in the homozygous state, it may cause significant anemia when coinherited with an additional pathogenic variant in β‐globin. Understanding the full impact of Hb‐COH is crucial for optimal patient management and for genetic counseling.
Source: Clinical Genetics
DOI: 10.1111/cge.14675
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4405599102