Richardson, Matthew, MD

English

Scholarly Commons @ Baystate Health

PRACTICAL PEARL: HEMOGLOBIN ABNORMALITIES ON NEWBORN SCREEN  Introduction  Newborn screening (NBS) for hemoglobinopathies allows identification of children with hemoglobin abnormalities associated with disease and initiation of referral and treatment.   A detailed review of the NBS program for hemoglobinopathies is available on the New England Pediatric Sickle Cell Consortium website: https://nepscc.org/health-providers/screening/ Initial Evaluation and Management by Primary Care   NBS results are reported for hemoglobins in order of relative abundance, e.g., “FA” indicates abundance of hemoglobin F is greater than A (normal finding).  Hemoglobinopathies are identified when hemoglobins other than F and A are present. In sickle cell anemia, the relative abundance is important in determining trait versus disease. Sickle cell trait would demonstrate an FAS pattern; sickle cell disease demonstrates an FS pattern.   If patterns consistent with sickle cell disease (FS, FSA, FSC, FSV) are reported, the child should immediately be treated with prophylactic penicillin (125mg po BID) and referred to Pediatric Hematology.  Bart’s hemoglobin, reported as FAB, reflects some degree of alpha-thalassemia; follow up is determined by family history and the frequency of the condition in certain ethnic groups.  When to Refer  Hemoglobin patterns consistent with a form of sickle cell disease (FS, FSA, FSC, FSV). How to Refer  (413) 794-KIDS   Questions for the hematologist: (413) 794-9338 What to Expect From Baystate Children’s Hospital Visit  Confirmatory testing, consultation, treatment and follow-up care based on the diagnosis.   Authors:   Matthew Richardson, MD      Pediatric Hematology/Oncology      February 2019 Contact:  Baystatechildrenshospital@baystatehealth.org 

Practical Pearl: Hemoglobin Abnormalities on Newborn Screen - February 2019

https://scholarlycommons.libraryinfo.bhs.org/cgi/viewcontent.cgi?article=1041&amp;context=pedipearl

Practical Pearl: Hemoglobin Abnormalities on Newborn Screen - February 2019

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