Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52027
Abstract: Most individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on… read more here.
Keywords: phenotypic variation; compound heterozygotes; compound; friedreich ataxia ... See more keywords
Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without α0-Thalassemia
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DOI: 10.1080/03630269.2020.1768109
Abstract: Abstract Hb Westmead (α122(H5)His>Gln) (HBA2: c.369C>G) is a common α-globin variant causing α-thalassemia (α-thal) in Mainland China. In this study, we report the hematological characteristics in Hb Westmead carriers in a Chinese population. There were… read more here.
Keywords: hematological characteristics; thal; compound heterozygotes; hba2 369c ... See more keywords
Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes
Sign Up to like & getrecommendations! Published in 2024 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2024.2337950
Abstract: ABSTRACT Background Patients with p.C282Y homozygous (p.C282Y) HFE mutations are more likely to develop hemochromatosis (HC) than p.C282Y/p.H63D compound heterozygotes (p.C282Y/H63D). Research design and methods We conducted a retrospective chart review of 90 p.C282Y and… read more here.
Keywords: c282y; compound heterozygotes; c282y h63d; hfe c282y ... See more keywords