Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling

Review Cell Biology

Kruppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis

Cristian Antonio Caria et al.

Summary: Kruppel-like factor 1 (KLF1) plays a crucial role in erythropoiesis, particularly in erythroid lineage commitment, terminal erythropoiesis progression, and globin gene switching. KLF1 is involved in haemoglobin switching through direct activation of the beta-globin gene and silencing of the gamma-globin gene via activation of BCL11A. Various human gene mutations associated with benign phenotypes and erythroid disorders have been identified. Understanding the phenotype associated with each mutation has contributed significantly to our knowledge of the complex role of KLF1 in erythropoiesis.

CELLS (2022)

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Article Infectious Diseases

Real-Time Whole Genome Sequencing to Guide Patient-Tailored Therapy of Severe Acute Respiratory Syndrome Coronavirus 2 Infection

Luke B Snell et al.

CLINICAL INFECTIOUS DISEASES (2022)

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Article Hematology

Clinical and health-related quality of life outcomes of transfusion-dependent thalassaemia patients in Singapore

Joyce Ching Mei Lam et al.

Summary: Transfusion-dependent thalassaemia patients in Singapore experience complications primarily related to iron overload, with liver iron loading being the most common, followed by cardiac iron loading and endocrine complications. Older patients in the 31-50 age cohort are more likely to develop cardiac iron loading, endocrine complications, and lower TranQOL scores compared to younger cohorts.

BLOOD CELLS MOLECULES AND DISEASES (2021)

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Article Medicine, General & Internal

Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers

Cyril Cyrus et al.

Summary: This study investigated the association of known HbF enhancer QTL gene SNPs with HbA(2) levels. Results showed that SNPs in HBBP1, OR51B6, and the TCT haplotype from the HBG2 promoter region were associated with elevated HbA(2) levels.

ARCHIVES OF MEDICAL SCIENCE (2021)

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Review Biotechnology & Applied Microbiology

Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers

Stacy Colaco et al.

Summary: There is inconsistency in the exact definition of diagnostic levels of HbA(2) for beta thalassemia trait. Among individuals with borderline HbA(2) levels, 35.4% carry a molecular defect, highlighting the importance of a comprehensive molecular work up for accurate diagnosis of borderline HbA(2) beta thalassemia carriers.

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2021)

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Article Genetics & Heredity