Dataset Information

Molecular understanding of unusual HbE-β⁺-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

ABSTRACT:

Background

Low HbF expression in HbE-β⁺-thalassemia may lead to misdiagnosis of HbE heterozygosity. We aimed to characterize the β- and α-globin genes and the modifying factors related to HbF expression in patients with an Hb phenotype similar to that of HbE heterozygotes. Furthermore, screening tools for differentiating HbE-β⁺-thalassemia from HbE heterozygotes have been investigated.

Participants and methods

A total of 2133 participants with HbE and HbA with varying HbF levels were recruited. Polymerase chain reaction-based DNA analysis and sequencing were performed to characterize β- and α-globin genes. DNA polymorphism at position -158 nt 5' to ^Gγ-globin was performed by XmnI restriction digestion. Receiver operating charact

SUBMITTER: Jomoui W

PROVIDER: S-EPMC10732225 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

ACCESS DATA

Dataset Information

Molecular understanding of unusual HbE-β⁺-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

Background

Participants and methods

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

Background

Participants and methods

OmicsDI is part of the ELIXIR infrastructure

Tweets

Molecular understanding of unusual HbE-β⁺-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.