NCC Knowledge Nugget Series: Hemoglobin S/C Disease ACT Sheet-Hemoglobin S/C Disease ACT Sheet

Hemoglobin S/C Disease ACT Sheet

Pdf Summary

The document is an ACT Sheet from the American College of Medical Genetics and Genomics, specifically focusing on newborn screening for Hemoglobin S/C disorder. Hemoglobin S/C is an inherited red blood cell disorder caused by genetic changes in the beta hemoglobin chain, leading to various symptoms as the individual ages. The sheet provides actions for clinicians to take upon receiving a positive screening result, including informing the family, evaluating the newborn, administering penicillin, and consulting a sickle cell specialist. It advises on diagnostic evaluations and highlights the importance of genetic counseling. The document also emphasizes the need for comprehensive care, early detection of complications, and proper management under the guidance of a specialist to reduce morbidity and mortality. Referral resources for hematologists, genetic clinics, and additional information sources are provided for further assistance. Overall, the document serves as a guide for clinicians in providing quality medical services for newborns with Hemoglobin S/C disorder while emphasizing the importance of professional judgment and continuous education in this field.

Keywords

Newborn screening

Hemoglobin S/C disorder

Genetic changes

Red blood cell disorder

Positive screening result

Penicillin administration

Sickle cell specialist consultation

Genetic counseling

Comprehensive care

Early detection of complications