Hemoglobinopathy Profile - HbF/HbS

Anemia

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Evaluates blood components for anemia or infection

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Hemoglobinopathy Profile - HbF/HbS

Why is it done?
- Detects abnormal hemoglobin variants, specifically hemoglobin S (HbS) associated with sickle cell disease and hemoglobin F (HbF) which is fetal hemoglobin that persists in certain conditions
- Screens for sickle cell disease, sickle cell trait, and hemoglobinopathies in newborns, children, and adults with family history or symptoms
- Identifies individuals with elevated fetal hemoglobin levels, which may indicate hereditary persistence of fetal hemoglobin (HPFH) or other hemolytic conditions
- Ordered during routine newborn screening programs, evaluation of anemia, unexplained hemolysis, or when patient presents with symptoms suggestive of hemoglobinopathy
- Performed in prenatal genetic counseling and carrier screening for at-risk populations, particularly individuals of African, Mediterranean, or Middle Eastern descent
Normal Range
- Hemoglobin F (HbF): <1% (or <0.01 or <10 g/dL) in adults. In newborns, HbF can be 50-80% and gradually decreases to adult levels by 6-12 months of age
- Hemoglobin S (HbS): Absent or <0.5% in individuals without sickle cell disease or trait. Not detectable in normal hemoglobin AA phenotype
- Normal Hemoglobin Pattern (AA): HbA 96-98%, HbA2 2-4%, HbF <1%, HbS absent
- Interpretation: Normal results indicate absence of sickle cell disease, sickle cell trait, and normal fetal hemoglobin levels consistent with adult hemoglobin pattern
Interpretation
- Sickle Cell Disease (SS or S-β0 thalassemia): HbS >80% (typically 80-95%), HbF variable (0-30%), minimal HbA. Patient has two copies of sickle cell gene and manifests clinical disease with vaso-occlusive crises, hemolysis, and organ damage
- Sickle Cell Trait (AS): HbS 20-40%, HbA 60-80%, HbF <1%. Heterozygous carrier with one normal and one sickle cell allele; typically asymptomatic but can have complications under extreme stress conditions
- Elevated HbF (>1-2%): Suggests hereditary persistence of fetal hemoglobin (HPFH), hemolytic anemia, or beta-thalassemia. Elevated HbF provides protection against sickling, reducing symptom severity in sickle cell disease
- S-Beta Thalassemia (S-β+): HbS 50-80%, HbA 20-30%, HbF 10-30%, elevated HbA2. Compound heterozygous state with moderate disease severity
- S-Beta0 Thalassemia (S-β0): HbS 80-95%, HbA absent, HbF 5-15%, elevated HbA2. Severe disease similar to homozygous sickle cell disease
- Factors affecting results: Blood transfusions can suppress HbF levels and HbS percentage; recent transfusions may mask disease severity. Hemolytic events increase HbF production. Age-dependent variation in infants and children
Associated Organs
- Primary organ systems involved: Hematologic system (bone marrow, red blood cells); vascular system; organs affected by vaso-occlusion including brain, heart, lungs, kidneys, spleen, and liver
- Sickle cell disease complications: Acute chest syndrome, stroke, splenic sequestration, priapism, osteonecrosis, chronic kidney disease, pulmonary hypertension, retinopathy, and leg ulcers
- Chronic hemolysis consequences: Severe anemia, iron overload, cholelithiasis, jaundice, and cardiomegaly from compensatory cardiac output demands
- Associated diseases: Sickle cell disease (homozygous), sickle cell trait (heterozygous), beta-thalassemia, hereditary persistence of fetal hemoglobin, and other hemoglobinopathies
- Mortality and morbidity risks: Homozygous sickle cell disease carries significant mortality risk, particularly in childhood if untreated. Life expectancy has improved with modern management but remains reduced compared to general population
Follow-up Tests
- Confirmatory testing: High-performance liquid chromatography (HPLC) for precise quantification; isoelectric focusing; DNA testing for genetic confirmation and mutation analysis
- Baseline evaluation tests: Complete blood count (CBC), reticulocyte count, peripheral blood smear, lactate dehydrogenase (LDH), bilirubin, haptoglobin to assess hemolysis severity
- Organ function monitoring: Renal function tests (creatinine, BUN), urinalysis for proteinuria, liver function tests, transcranial Doppler ultrasound for stroke risk, pulmonary function tests, cardiac echo
- Screening for complications: Ophthalmologic exam for retinopathy, abdominal ultrasound for splenic status and cholelithiasis, bone imaging for avascular necrosis, chest X-ray for acute chest syndrome
- Genetic counseling and family testing: Hemoglobin electrophoresis for parents and siblings; prenatal testing in future pregnancies using amniocentesis or chorionic villus sampling
- Ongoing monitoring frequency: Sickle cell disease patients require regular assessment every 3-6 months minimum; more frequent evaluation during acute illness. Carriers (trait) need once-time screening and family counseling
Fasting Required?
- Fasting requirement: No - Fasting is NOT required for hemoglobinopathy profile testing
- Patient preparation: Patient can eat and drink normally before testing. Routine daily medications may be taken as scheduled without affecting results
- Important considerations: Recent blood transfusions (within 2-4 weeks) can affect HbS percentage and HbF levels; inform the laboratory if transfusion occurred. Avoid hemolysis by drawing blood atraumatically
- Special instructions: No aspiration of specimens; maintain specimen integrity during transport. For infants, heel stick capillary collection or venipuncture acceptable. Blood sample should be stored at room temperature and processed within 24 hours
- Anticoagulant requirement: EDTA (ethylenediaminetetraacetic acid) anticoagulant tube - purple/lavender top tube. Do not use other anticoagulants or clotted samples as they interfere with electrophoresis results

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