NCC Knowledge Nugget Series: Beta Thalassemia ACT Sheet-Beta Thalassemia ACT Sheet

Beta Thalassemia ACT Sheet

Pdf Summary

The document is an ACT Sheet providing guidelines for healthcare professionals on newborn screening for hemoglobin disorders like beta-thalassemias. This resource emphasizes the importance of individualized clinical judgment and ongoing evaluation in diagnosing and managing these conditions. It outlines actions for clinicians, such as informing families of screening results, consulting with specialists, and monitoring symptoms like anemia and organ enlargement. The document stresses the need for confirmatory diagnostic testing and genetic counseling. It also highlights the potential complications of untreated beta-thalassemia, including anemia and organ damage. Additional information and resources are provided for further support, including links to genetic testing registries, hematology specialists, and genetic clinic directories. Overall, the ACT Sheet serves as an educational tool to assist healthcare providers in delivering quality medical care for newborns with beta-thalassemias, promoting early detection, intervention, and ongoing management to improve patient outcomes.

Keywords

Newborn screening

Hemoglobin disorders

Beta-thalassemias

Individualized clinical judgment

Confirmatory diagnostic testing

Genetic counseling

Anemia

Organ enlargement

Complications

Genetic testing registries