Master's in Genetic Counseling (MGC)

Hemoglobinopathies in Maryland

The state of Maryland has a two specimen screening protocol. The initial specimen is drawn after the baby has had 24 hours of protein containing feedings, and the subsequent specimen is usually drawn between one and four weeks of age.

Screening for hemoglobinopathies in the state of Maryland is performed by isoelectric focusing. The results are confirmed by high performance liquid chromatography (HPLC). Diagnostic testing consists of repeat isoelectric focusing, HPLC, or electrophoresis and a pediatric hematology consultation with physical exam, examination of a blood smear, and laboratory and family studies as ordered by the consultant.

The follow-up recommendations for hemoglobinopathy screens in the state of Maryland are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
FA	Normal hemoglobin pattern for a newborn. This result indicates the presence of fetal hemoglobin F and normal adult hemoglobin A.	none
FAS	Consistent with benign sickle cell trait. This result indicates the presence of normal adult hemoglobin A and hemoglobin S.	A follow-up hemoglobin electrophoresis is required at one year of age to rule out sickle b+ thalassemia. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FAC	Consistent with benign hemoglobin C trait. This result indicates the presence of normal adult hemoglobin A and hemoglobin C.	A follow-up hemoglobin electrophoresis is required at one year of age. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FAV	Heterozygous for an unusual variant hemoglobin. This result indicates the presence of both hemoglobin A and hemoglobin F, as would be expected in the newborn. However, an anomalous band (V) is present which does not appear to be any of the common hemoglobin variants.	A follow-up hemoglobin electrophoresis is required at one year of age. Pediatric hematology consultation to identify the variant is recommended. Family testing is also recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
AF	Possible transfusion. This result indicates that the concentration of normal adult hemoglobin A is equal to or greater than the concentration of fetal hemoglobin F. This reversal in concentration suggests that the baby was transfused prior to collection of the specimen.	Ascertain whether the baby has been transfused. If the baby has been transfused, a follow-up specimen 4 months after the last transfusion is required.
F	Possible thalassemia. This result indicates the presence of fetal hemoglobin F without normal adult hemoglobin A. Although this may indicate delayed hemoglobin switching, it may also represent b thalassemia or hereditary presence of fetal hemoglobin (HPFH). It is not possible to interpret this finding without further laboratory studies.	A follow-up filter paper specimen is required at one month of age. If the subsequent specimen(s) continue to be F only, referral to a pediatric hematology consultant is required. Report the patient to the Office for Hereditary Disorders at (410) 767-6730.
FS	Consistent with homozygous sickle cell anemia, genotype (S/S). This result indicates the presence of hemoglobin S without detectable normal adult hemoglobin A.	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, referral to a pediatric hematology consultant is required. Begin prophylactic penicillin (125 mg bid) pending consultation. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FSA	Possible sickle b + thalassemia. This result indicates that the relative quantity of hemoglobin S is greater than the quantity of normal adult hemoglobin A. This may indicate delayed appearance of hemoglobin A or sickle b + thalassemia.	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, a pediatric hematology consultation is required. Begin prophylactic penicillin (125 mg bid) pending consultation. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FSC	Consistent with sickle hemoglobin C disease (SC disease), genotype (S/C). This result indicates the presence of hemoglobin S and hemoglobin C.	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, a pediatric hematology consultation is required. Begin prophylactic penicillin (125 mg bid) pending consultation. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FSV	Doubly heterozygous for hemoglobin S and an unidentified variant hemoglobin, a possible disease state. This result indicates the presence of both hemoglobin S and an unidentified variant hemoglobin (V).	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, a pediatric hematology consultation is required. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FC	Consistent with homozygous hemoglobin C disease, genotype (C/C). This result indicates the presence of hemoglobin C without detectable normal adult hemoglobin A.	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, a pediatric hematology consultation is required. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.
FV	Possible homozygous disease state with an unusual hemoglobin variant (V). This result indicates the presence of an anomalous band(s) which does not appear to be any of the common hemoglobin variants, in the presence of normal adult hemoglobin A.	A follow-up filter paper specimen is required at one month of age. If the follow-up specimen is abnormal, a pediatric hematology consultation is required. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. Family testing is recommended. If the parents are at risk for having a child with a significant hemoglobin disorder, genetic counseling is recommended.

NOTE: This test is invalidated by transfusion.

 

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