Neonatal Hemoglobinopathy Profile

Anemia

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Screening test performed on newborns to detect abnormal hemoglobin variants

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Neonatal Hemoglobinopathy Profile

Why is it done?
- Detects hemoglobin disorders and abnormal hemoglobin variants in newborns, including sickle cell disease (HbS), thalassemia, and other clinically significant hemoglobinopathies
- Part of routine newborn screening programs performed 24-48 hours after birth or before hospital discharge
- Enables early diagnosis and intervention to prevent serious complications such as acute chest syndrome, stroke, and organ damage
- Identifies carriers of hemoglobin variants for genetic counseling and family planning purposes
- Recommended for all newborns regardless of ethnicity or family history
- Blood sample obtained from heel prick onto filter paper card (dried blood spot)
Normal Range
- Hemoglobin Pattern (Normal Newborn): HbF (Fetal Hemoglobin): 50-90% - predominant hemoglobin in newborns HbA (Adult Hemoglobin): 10-50% - gradually increases after birth HbA2 (Minor hemoglobin): <3.5% HbS, HbC, HbE: Absent or <1% (values dependent on ethnic background)
- Interpretation: Normal (AA pattern): HbF + HbA2 + HbA only - no hemoglobinopathy detected Heterozygous carriers: One normal and one abnormal hemoglobin allele present Homozygous affected: Two copies of abnormal hemoglobin (disease state) Trait carriers: May have no clinical symptoms but carry genetic mutation
- Units of Measurement: Percentage (%) of total hemoglobin Results reported by hemoglobin electrophoresis or high-performance liquid chromatography (HPLC)
- Normal vs. Abnormal: Normal: HbF and HbA only, with no abnormal variants (AA genotype) Abnormal: Presence of HbS, HbC, HbE, or other variants indicating hemoglobinopathy or carrier status
Interpretation
- AA Pattern (Normal): No hemoglobinopathy detected; normal hemoglobin pattern; no further testing needed unless family history suggests risk
- AS Pattern (Sickle Cell Trait): Heterozygous carrier with one normal (A) and one sickle (S) allele; typically no clinical symptoms; requires genetic counseling and follow-up testing
- SS Pattern (Sickle Cell Disease): Homozygous for sickle hemoglobin; affected individual with chronic hemolytic anemia; at high risk for vaso-occlusive crises, stroke, and organ damage; requires immediate specialist referral and treatment initiation
- AC/SC/SE Patterns (Other Variants): Heterozygous combinations indicating carrier status or disease variants; clinical significance varies; may require hemoglobin electrophoresis confirmation and specialist evaluation
- Beta-Thalassemia Variants: Elevated HbA2 (>4.5%) or HbF with normal HbA indicates thalassemia trait or disease; requires further testing with complete blood count and iron studies
- Factors Affecting Results: - Age of newborn (optimal testing 24-48 hours after birth when fetal hemoglobin declines) - Recent blood transfusion may mask results - Sample quality and proper collection on filter paper card - Laboratory methodology (electrophoresis vs. HPLC) - Ethnic background influences prevalence of specific variants
- Clinical Significance: - Early detection allows for prophylactic penicillin therapy in sickle cell disease - Enables patient/family education and psychosocial support - Facilitates genetic counseling for reproductive decision-making - Identifies need for specialized follow-up care and monitoring - Prevents complications through early intervention and disease management
Associated Organs
- Primary Organ System: Hematopoietic system (bone marrow) and circulatory system; red blood cells affected throughout body
- Sickle Cell Disease Complications: - Spleen: Splenic infarction, functional asplenia, increased infection risk - Brain: Cerebral vaso-occlusion, stroke, cognitive impairment - Heart: Cardiomegaly, heart failure, arrhythmias - Lungs: Acute chest syndrome, pulmonary hypertension - Kidneys: Renal infarction, chronic kidney disease, hematuria - Liver: Hepatic sequestration, cirrhosis - Bones: Avascular necrosis, bone pain crises - Eyes: Retinopathy, vision loss
- Thalassemia Complications: - Bone marrow: Severe hemolytic anemia, extramedullary hematopoiesis - Spleen: Splenomegaly, hemolysis - Heart: Cardiomyopathy from iron overload - Liver: Cirrhosis, fibrosis from iron deposition - Endocrine glands: Growth failure, hypogonadism, diabetes
- Associated Medical Conditions: - Sickle cell disease (HbSS) - Sickle cell trait (HbAS) - Hemoglobin SC disease - Hemoglobin S/β-thalassemia - Beta-thalassemia major and minor - Hemoglobin E variants - Hemoglobin C disease
- Risk Factors for Complications: - Infection (particularly encapsulated bacteria) - Hypoxia and dehydration - Cold exposure - Physical or emotional stress - Genetic modifiers and environmental triggers
Follow-up Tests
- Confirmatory Testing (if abnormal result): - Hemoglobin electrophoresis to confirm pattern - High-performance liquid chromatography (HPLC) for precise identification - Isoelectric focusing for variant characterization
- Initial Diagnostic Workup: - Complete blood count (CBC) to assess hemoglobin levels and red blood cell indices - Reticulocyte count to evaluate bone marrow response - Peripheral blood smear to visualize red cell morphology - Liver function tests (ALT, AST, bilirubin) - Renal function tests (creatinine, BUN) - Iron studies including serum iron, ferritin, TIBC
- Specialized Follow-up (for confirmed hemoglobinopathy): - Genetic testing/counseling to identify specific mutations - Family member screening to determine carrier status - Baseline organ function assessment (cardiac, renal, hepatic imaging) - Transcranial doppler ultrasound (for stroke risk in sickle cell disease) - Ophthalmology examination
- Ongoing Monitoring: - Repeat hemoglobin testing at 3-6 months of age (confirmatory) - Regular CBC monitoring every 3-6 months - Annual comprehensive metabolic panel - Periodic organ function assessment based on clinical status - Infectious disease monitoring and immunization status
- Complementary Tests: - Parental hemoglobin testing to confirm inheritance pattern - DNA sequencing for uncertain or variant results - Newborn hearing screen and metabolic screening panel (routine screening) - Assessment for associated infections (HIV, hepatitis B/C if transfusions received)
Fasting Required?
- Fasting Requirement: No - Fasting is NOT required for neonatal hemoglobinopathy screening
- Sample Collection: - Heel prick blood sample collected on filter paper card - Can be performed at any time, regardless of feeding status - Newborn does not require fasting preparation
- Patient Preparation: - No special preparation required - Perform test 24-48 hours after birth for optimal results - Ensure infant is alert and calm if possible - Warm heel with warm cloth or warm water to promote blood flow (optional) - No medications need to be withheld
- Special Instructions: - No medication restrictions - Filter paper must be completely saturated with blood (both sides if available) - Allow blood spots to air dry completely before transport - Maintain proper chain of custody of specimen - Ensure legible identification on filter paper card - If transfusion given before testing, note on requisition (may affect results) - Repeat testing may be needed at 1-2 weeks if initial sample collected <24 hours
- Clinical Considerations: - Test is mandatory as part of state newborn screening programs in most U.S. states - Results typically available within 1-2 weeks - Positive results require immediate follow-up communication - Parent notification and education is critical component of screening process

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