Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Hematology"
DOI: 10.1007/s00277-017-3089-4
Abstract: Hemoglobin (Hb) E (HBB:c.79G>A)/β-thalassemia disease is the most common thalassemia syndrome in Southeast Asian countries with a high prevalence of Hb E. Even though patients could present with a wide spectrum of clinical severity, the… read more here.
Keywords: phenotype; prenatal control; homozygote; thalassemia ... See more keywords
A Novel NALCN Homozygote Variant in Non-related Infants with IHPRF1 Syndrome: A Report of 2 Cases
Sign Up to like & getrecommendations! Published in 2023 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp-134610
Abstract: Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with an important function in neuronal excitability. The activity of NALCN is essential in the balance of rhythmic behaviors. Infantile hypotonia with psychomotor retardation and… read more here.
Keywords: report; variant; ihprf1 syndrome; homozygote ... See more keywords