Clinical Management of Patients With Thalassemia Syndromes

Martin, Marie; Haines, Drucilla

doi:10.1188/16.cjon.310-317

Cited by 11 publications

(10 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Thalassemia is manifested primarily as chronic progressive hemolytic anemia 1 . The degree of anemia varies, depending on the type and amount of hemoglobin that is synthesized.…”

Section: Introductionmentioning

confidence: 99%

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

et al. 2021

View full text Add to dashboard Cite

Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α‐thalassemia and β‐thalassemia were 8.91% and 3.36%, respectively. There are 22 genotypes identified among 1632 α‐thalassemia cases, and 18 genotypes detected among 615 β‐thalassemia cases. The birthrates of individuals with intermediate thalassemia and β‐thalassemia major were 0.153% and 0.055%, respectively. Methodologically, NGS‐Gap‐PCR is superior to traditional detection methods, with 65 more cases detected by NGS‐Gap‐PCR. Since thalassemia‐rich genotypes were highly prevalent in this region, early detection of thalassemia carriers would be meaningful for genetic counseling and prevention/treatment of thalassemia. NGS‐Gap‐PCR provides a powerful tool for neonate genetic testing and clinical diagnosis of thalassemia, especially in high‐prevalence regions.

show abstract

“…Thalassemia is manifested primarily as chronic progressive hemolytic anemia 1 . The degree of anemia varies, depending on the type and amount of hemoglobin that is synthesized.…”

Section: Introductionmentioning

confidence: 99%

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

et al. 2021

View full text Add to dashboard Cite

show abstract

“…4 Currently, the management of thalassemia primarily depends on the clinical severity (thalassemia major, thalassemia intermediate, and thalassemia minor), 5 and conventional treatments include transfusion and iron-chelation therapy, as well as splenectomy in specific cases; however, there are no effective treatments for thalassemia major until now. 6 In couples carrying thalassemia genes, prenatal diagnosis during the first and second trimesters is accepted as the most effective approach for preventing the birth of fetuses with thalassemia major. 7 In this 10-year, single-center study, we characterized the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers and followed up the pregnant outcomes in Fujian province, southeastern China, where thalassaemia is highly prevalent.…”

Section: Backg Rou N Dmentioning

confidence: 99%

“…Currently, the management of thalassemia primarily depends on the clinical severity (thalassemia major, thalassemia intermediate, and thalassemia minor), 5 and conventional treatments include transfusion and iron‐chelation therapy, as well as splenectomy in specific cases; however, there are no effective treatments for thalassemia major until now 6 . In couples carrying thalassemia genes, prenatal diagnosis during the first and second trimesters is accepted as the most effective approach for preventing the birth of fetuses with thalassemia major 7 .…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Huang

Chen

et al. 2021

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

“…2 Thalassemia is a most common genetic disorder causing anemia. 3 Chronic kidney disease, chemotherapy, and inflammatory diseases can reduce erythropoietin (EPO) synthesis and inefficient iron homeostasis. 1,4 Treatment of anemia associated with CKD is done using EPO analogues or erythropoiesis-stimulating agents (ESA).…”

Section: ■ Introductionmentioning

confidence: 99%

Prolyl Hydroxylase Inhibitors: A Breakthrough in the Therapy of Anemia Associated with Chronic Diseases

et al. 2018

View full text Add to dashboard Cite

Chronic kidney disease, cancer, chronic inflammatory disorders, nutritional, and genetic deficiency can cause anemia. Hypoxia causes induction of hypoxia-inducible factor (HIF), which stimulates erythropoietin (EPO) synthesis. Prolyl hydroxylase domain (PHD) enzyme inhibition can stabilize hypoxia-inducible factor (HIF). HIF stabilization also decreases hepcidin, a hormone of hepatic origin, which regulates iron homeostasis. PHD inhibitors represent a novel pharmacological treatment of anemia associated with chronic diseases. Many orally active PHD inhibitors like roxadustat, molidustat, vadadustat, and desidustat are in late phase clinical trials. This review discusses the role of PHD inhibitors in the treatment of anemia associated with chronic diseases.

show abstract

Clinical Management of Patients With Thalassemia Syndromes

Abstract: Increasing knowledge about thalassemia and its management among healthcare providers can improve patient outcomes and quality of life.

Cited by 11 publications

References 36 publications

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Prolyl Hydroxylase Inhibitors: A Breakthrough in the Therapy of Anemia Associated with Chronic Diseases

Contact Info

Product

Resources

About