NCC Knowledge Nugget Series: Hemoglobin S/S Disease (Sickle Cell Disease) ACT Sheet-Hemoglobin S/S Disease (Sickle Cell Disease) ACT Sheet

Hemoglobin S/S Disease (Sickle Cell Disease) ACT Sheet

Pdf Summary

The document is an ACT Sheet providing guidance on newborn screening for Hemoglobin S/S or Hemoglobin S/Beta Zero Thalassemia. These are genetic conditions affecting red blood cells, with symptoms developing as abnormal hemoglobin production progresses. Clinicians are advised to inform families of screening results, evaluate newborns, administer prophylactic penicillin, consult with specialists, and provide genetic counseling. Diagnostic testing involves confirmatory techniques like isoelectric focusing and molecular genetic testing. Hemoglobin disorders can lead to various complications, highlighting the importance of early detection and comprehensive care to reduce morbidity and mortality. Clinicians are urged to apply their judgment in decision-making, document rationale for procedures, and stay updated on medical information. Local, state, and national resources are available for referrals and additional information on genetic conditions. Furthermore, the document emphasizes the importance of communicating screening results effectively and provides links to resources for further education and support.

Keywords

newborn screening

Hemoglobin S/S

Hemoglobin S/Beta Zero Thalassemia

genetic conditions

red blood cells

abnormal hemoglobin production

prophylactic penicillin

genetic counseling

diagnostic testing

molecular genetic testing