newborn screening and diagnosis of hemoglobin traits and...
TRANSCRIPT
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Newborn Screening and Diagnosis of Hemoglobin
Traits and Diseases
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Objectives
• Rationale for newborn screening (NBS) of hemoglobin disorders
• Methods of hemoglobin testing used by New England Newborn Screening Program (NENSP)
• Understanding process of NENSP for reporting abnormal results
• Interpretation and follow-up of abnormal NENSP results
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Primary Prevention • Identifying persons at risk for condition to allow
for education and follow-up (i.e. health promotion/protective measures)
Secondary Prevention • Identification of patients with a disease prior to
onset of symptoms or sequelae of the disease (i.e. screening)
Preventive Medicine
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Types of Newborn Screening
Universal • Screening all newborns
Targeted • Screening specific sub-groups of newborns based
upon certain criteria (perceived race/ethnicity or other risk factors)
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Newborn Screening Criteria
1. Life-threatening and/or catastrophic condition 2. Inexpensive and practical screening test 3. Effective treatment which prevents complications
Sickling disorders: • Life-threatening • Can be identified via screening hb electrophoresis • Penicillin prophylaxis reduces mortality
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1. Congenital Hypothyroidism
2. Congenital Toxoplasmosis
3. Phenylketonuria
4. Biotinidase Deficiency
5. Galactosemia
6. Maple Syrup Urine Disease (MSUD)
7. Homocystinuria
8. Congenital Adrenal Hyperplasia
9. Medium-chain acyl Co-A dehydrogenase deficiency (MCAD)
10. Hemoglobin Disorders
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• Primary aim of NBS for hemoglobinopathy is to identify individuals with sickling disorders
• 1987 NIH recommends universal screening for sickling disorders be mandated by State Law
• Secondary outcome is the identification of a variety of other major and minor Hb disorders:
- β thalassemia major - α thalassemia minor - other variants
Newborn Screening for Hemoglobin Diseases
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Newborn Screening for Hemoglobin Diseases
Volume 314:1593-1599. June 19, 1986. Number 25
Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial.
MH Gaston, JI Verter, G Woods, C Pegelow, J Kelleher, G Presbury, H Zarkowsky, E Vichinsky, R Iyer, JS Lobel, and et al.
“We conclude that children should be screened in the neonatal period for sickle cell hemoglobinopathy and that those with sickle cell anemia should receive prophylactic therapy with oral penicillin by four months of age to decrease the morbidity and mortality associated with pneumococcal septicemia.”
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National NBS for Hemoglobin Diseases • Universal
– All but 7 states • Targeted/Optional
– Alaska, New Hampshire, North Dakota, South Dakota, West Virginia
• Universal pilot – Montana
• None – Idaho As of December 2002
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Hemoglobin and Hemoglobin Testing
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Normal Hemoglobin (HbA)
- Heterotetramer 2 α and 2 ß chains (α2ß2)
- Each globin chain is bound to a heme moiety
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Globin Genes
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Progression of Globin Synthesis
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Newborn Screening Process
• Mandated sample sent to State Lab on filter paper at about 48 hours of life
• Premature infants need testing before transfusion
• Results available within days of receipt
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Methods of Newborn Screening • Hemoglobin electrophoresis
– Hemoglobins migrate and separate based on charge – Inexpensive, widely practiced, relatively slow. – Low sensitivity if Hb S <10% (i.e. preemies) – Difficulty with co-migration of some Hb variants
• Methods of testing
– Isoelectric focusing* – Citrate agar* – Cellulose acetate – High performance liquid chromatography (HPLC) * used in NENSP
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Iso-electric Focusing (IEF)
Initial screening test performed by NENSP
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Citrate Agar Electrophoresis
A2 S F A
A2 S F A
Normal Adult Normal Newborn
HPFH / A ß0 thalassemia / A Hb SF Control
HPFH / ß0 thalassemia
Second test performed by NENSP
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Cellulose Acetate
Adult samples Control
Control
Control
Hb SC
Hb SS
Normal adult
Hb AS
Alternative method of electrophoresis not used in NENSP
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High-Performance Liquid Chromatography (HPLC)
• Alternative method of electrophoresis not used in NENSP
• Spectrophotometric analysis- allows for differentiation and quantification of hemoglobin variants
• Useful to verify or diagnose specific type of hemoglobin disease or trait
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HPLC
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Additional Methods of Testing Hemoglobins • Sickle solubility (Sickledex)
– Only identifies presence of HbS in sample – Cannot distinguish sickle cell disease from trait – Cannot identify Hb C trait – NEVER use as a screening tool
• CBC – Hb, RDW and MCV – Only useful as an adjunct to electrophoresis
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NBS Hemoglobin Outcomes
• Sickling disorders – HbSS, HbS-β thalassemia, HbSC – HbS with other variant (i.e. HbSOArab, HbSDLosAngeles)
• Non-sickling disorders and traits – β thalassemia major, α thalassemia traits and
disease. – Hb EE, Hb CC – HPFH – Multiple hemoglobin traits (HbAS, HbAC, HbAE)
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Reporting Results: The New England Newborn Screening Program
• Hemoglobins are reported in order of relative abundance
FA → F > A FAB → F > A > B FAS* → F > A > S FSA* → F > S > A
Important: FAS ≠ FSA
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Reporting Sequence for Abnormal Results : Sickling Disorders
PCP Notification by NENSP • Telephone notification to PCP • Written report and fact sheet faxed to PCP • Confirmation sample requested
(filter paper) from PCP • Confirmation results sent to PCP
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By PCP • Family notified and repeat specimen sent to
NENSP
By NENSP • Infant followed until family notified, penicillin
prophylaxis initiated, and initial hematology visit • After confirmatory test, family contacted by
NENSP and offered home visit for teaching and family testing
Reporting Sequence for Abnormal Results : Sickling Disorders
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• Report and fact sheet mailed to PCP • Initial letter mailed to family • Second, more specific letter mailed to family with
written information • Home visit with family testing offered by NENSP • Infant’s results confirmed only at family or PCP
request
Reporting Sequence for Abnormal Results by NENSP: Hemoglobin Traits and Non-Sickling Disorders
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Limitations of NENSP for Hemoglobin Diseases • Electrophoresis does not quantify hemoglobins other
than relative abundance • NENSP cannot distinguish between certain
hemoglobins – HbE from HbOArab OR HbDLosAngeles from HbG
• α thalassemia – Indicated by presence of Hb Bart’s – But cannot determine degree of α thalassemia in newborns and
cannot identify in non-newborns
• β thalassemia – Cannot identify β thalassemia trait
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How to Test Family Members for Hemoglobin Traits and Diseases
• CBC (including MCV) • Hemoglobin electrophoresis
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Interpretation of NENSP Results
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What does this mean? • HbF > HbA • Normal
Is this a disease? • No
What do you do? • Nothing
FA
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FAS What does this mean?
• Hb F > HbA > HbS • Sickle cell trait
Is this a disease? • No
What do you do? • Family testing and counseling
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What does this mean? • A form of sickle cell disease • Either HbSS or HbS-ß0 thalassemia
Is this a disease? • Yes
What do you do? • Immediately start Penicillin VK 125 mg PO BID. • See infant within 1-2 weeks. • Send repeat NBS (filter paper) to state lab. • Refer patient to a pediatric hematology program
FS
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FS (continued) If neither parent has a hemoglobin disease what
are their hemoglobin types? • Both parents are HbAS (sickle cell trait)
The infant has HbSS Disease
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FS (continued) OR
• One parent is HbAS (sickle cell trait) and the other is HbA-β0 thal (β thalassemia trait)
The infant has HbS-β 0 thalassemia disease
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What does this mean? • A form of sickle cell disease • HbS-ß+ thalassemia
Is this a disease? • Yes
What do you do? • Immediately start Penicillin VK 125 mg PO BID • See infant within 1-2 weeks • Send repeat NBS (filter paper) to state lab • Refer patient to a pediatric hematology program
FSA
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Remember !!! • FAS ≠ FSA • Why?
– Hemoglobins are listed in order of relative abundance
• FAS is sickle cell trait • FSA is HbS-β+ thalassemia
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FSA (continued) If neither parent has a hemoglobin disease what
are their hemoglobin types? • One parent is HbAS (sickle cell trait) and the other is
HbA-β+ thalassemia (beta-thalassemia trait)
The infant has HbS-β+ thalassemia disease
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FSC What does this mean? • A form of sickle cell disease • HbSC
Is this a disease? • Yes
What do you do? • Immediately start Penicillin VK 125 mg PO BID • See infant within 1-2 weeks • Send repeat NBS (filter paper) to state lab • Refer patient to a pediatric hematology program
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A Twist! When You Speak to the Parents:
• Mother states her prenatal testing revealed she has sickle cell trait
• Father states that he has been “tested” and does not have sickle cell trait
• Father is upset and believes that this cannot be his baby
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FSC (continued) If neither parent has a hemoglobin disease what
are their hemoglobin types? • One parent is HbAS (sickle cell trait) and the other is HbAC (C trait)
The infant has HbSC Disease
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FSC (continued) The mother’s result is HbAS and the
father’s is HbAC How could this have happened?
• The father may have had a “sickledex” or “Sickle prep” screening test, not a hemoglobin electrophoresis
• The “sickledex” screening test identifies only Hemoglobin S and not Hemoglobin C
• On a “sickledex”, the father, with HbC trait would be “negative”
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Conclusion
• Universal newborn screening in New England includes hemoglobin diseases
• Results available to any health care provider caring for child
• NENSP reports hemoglobins in order of relative abundance
• Every patient with a potential sickling disease needs to be followed by a pediatric hematology program
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Supported in part by Project # 2H46 MC00232-02 from the Maternal and Child Health Bureau (Title V, Social Security Act).