Hemoglobinopathy Profile - HbF/HbS (with Graph)

Anemia

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Evaluates blood components for anemia or infection

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Hemoglobinopathy Profile - HbF/HbS (with Graph)

Why is it done?
- Detects and quantifies abnormal hemoglobin variants, specifically HbF (fetal hemoglobin) and HbS (sickle hemoglobin)
- Diagnoses sickle cell disease (HbSS) and sickle cell trait (HbAS) by measuring hemoglobin S levels
- Identifies elevated fetal hemoglobin (HbF) which may indicate sickle cell disease, hereditary persistence of fetal hemoglobin (HPFH), or thalassemia
- Used for newborn screening programs to identify hemoglobinopathies early
- Evaluates patients with symptoms of anemia, acute chest syndrome, bone pain, or recurrent infections
- Screens family members when hemoglobinopathy is suspected in relatives
- Monitors patients with known hemoglobinopathies during clinical management
Normal Range
- HbF (Fetal Hemoglobin): 0.0-1.0% (or <2%) in adults Typically absent or minimal in normal adults after 6 months of age
- HbS (Sickle Hemoglobin): 0% (absent) in normal individuals HbA (normal adult hemoglobin) comprises 97-99% of total hemoglobin
- Normal Pattern: Predominantly HbA (97-99%), minimal or no HbF (<1%), no HbS
- Interpretation: • Normal result indicates absence of sickle cell disease or trait and normal hemoglobin patterns • Elevated HbF with normal HbS suggests hereditary persistence of fetal hemoglobin (HPFH) or other causes • Presence of HbS indicates either sickle cell trait or disease • Result expressed as percentage (%) of total hemoglobin with graphical representation
Interpretation
- HbS Present (>0%): Indicates presence of sickle hemoglobin; patient is either a carrier or has sickle cell disease
- HbS 20-40%: Indicates sickle cell trait (HbAS carrier); one sickle hemoglobin gene and one normal gene; typically asymptomatic
- HbS >80%: Indicates sickle cell disease (HbSS); two sickle hemoglobin genes; patient experiences hemolytic anemia and vaso-occlusive crises
- HbF Elevated (>1%): May indicate sickle cell disease, thalassemia, HPFH, recent transfusion, or other hemolytic anemias
- HbF with HbS Moderate (>20%): Higher HbF levels provide some protection against sickling and may indicate milder disease course
- Factors Affecting Results: • Recent blood transfusions may alter hemoglobin patterns • Pregnancy may slightly increase HbF levels • Chronic hemolytic anemias increase HbF production • Medications affecting bone marrow function • Age (HbF typically decreases after infancy) • Ethnicity and genetic variation influence baseline HbF levels
- Clinical Significance: • Definitive test for sickle cell disease and trait diagnosis • Helps predict disease severity based on HbF levels • Essential for genetic counseling and family planning • Graphical representation aids visual comparison of hemoglobin fractions • Used to monitor effectiveness of treatments like hydroxyurea
Associated Organs
- Primary Organs Involved: • Blood and bone marrow (hematopoietic system) - where hemoglobin is synthesized • Red blood cells - directly affected by hemoglobin abnormalities
- Commonly Associated Conditions: • Sickle Cell Disease (HbSS) - chronic hemolytic anemia with vaso-occlusive complications • Sickle Cell Trait (HbAS) - heterozygous carrier state • Beta-thalassemia major and minor - abnormal beta-globin chain production • Hereditary Persistence of Fetal Hemoglobin (HPFH) - benign condition with elevated HbF • Other hemoglobinopathies - HbC disease, HbE disease, HbD disease
- Target Organs Affected by Abnormal Results: • Brain - stroke risk from vaso-occlusion • Heart - cardiac complications from chronic anemia and hemolysis • Lungs - acute chest syndrome and pulmonary hypertension • Spleen - splenic infarction and autosplenectomy • Kidneys - chronic kidney disease from microinfarcts • Bones - osteonecrosis and bone pain crises • Liver - cirrhosis and hepatic complications
- Potential Complications: • Severe hemolytic anemia and chronic hypoxia • Vaso-occlusive crises with multi-organ damage • Acute chest syndrome (life-threatening) • Chronic pain and organ dysfunction • Iron overload from multiple transfusions • Pulmonary hypertension • Increased infection risk from functional asplenia
- Diseases Diagnosed or Monitored: • Sickle cell disease - primary diagnostic indicator • Hemoglobinopathies - various abnormal hemoglobin variants • Thalassemia spectrum - alpha and beta thalassemia variants • Hereditary persistence of fetal hemoglobin • Hemolytic anemias of various origins
Follow-up Tests
- If Abnormal Results (HbS Present): • Complete Blood Count (CBC) - assess hemoglobin, hematocrit, WBC, platelets • Reticulocyte Count - evaluate bone marrow response and hemolysis rate • Peripheral Blood Smear - identify sickle cells and other RBC morphology • Comprehensive Metabolic Panel - assess kidney and liver function • LDH and Bilirubin - markers of hemolysis severity • Serum Ferritin - assess iron overload from transfusions
- Confirmatory and Diagnostic Tests: • Hemoglobin Electrophoresis - detailed hemoglobin pattern separation • High-Performance Liquid Chromatography (HPLC) - quantitative hemoglobin fractionation • Isoelectric Focusing - alternative confirmatory method • DNA Testing/Genetic Testing - identify specific globin gene mutations
- Monitoring Tests for Diagnosed Sickle Cell Disease: • Repeat Hemoglobinopathy Profile - monitor disease progression and treatment response (annually or every 3-6 months) • CBC - regular monitoring of blood counts • Reticulocyte Count - assess ongoing hemolysis • Blood Smear - detect complications like sepsis or acute events
- Organ Damage Assessment Tests: • Transcranial Doppler (TCD) ultrasound - assess stroke risk • Echocardiogram - evaluate cardiac function and pulmonary pressure • Renal function tests (BUN, creatinine, urinalysis) - detect kidney involvement • Liver function tests - assess hepatic complications • Chest X-ray - evaluate for acute chest syndrome or chronic changes • MRI/CT imaging - assess for organ infarction or damage
- Family and Carrier Screening: • Family members should be tested with hemoglobinopathy profile • Genetic counseling recommended for carrier identification • Prenatal testing possible for at-risk pregnancies
- Treatment Response Monitoring: • Hemoglobinopathy profile with HPLC - monitor HbF response to hydroxyurea therapy • Expected increase in HbF levels with effective treatment • Baseline and periodic measurements (every 3-6 months) during therapy adjustment
Fasting Required?
- Fasting Requirement: NO - Fasting is not required for hemoglobinopathy profile testing
- Timing Considerations: • Test can be performed at any time of day • No specific time restrictions apply • Patient may eat and drink normally before the test • Hydration status does not affect test results
- Medications to Avoid: • No specific medications need to be held or avoided • Continue all regular medications as prescribed • Anticoagulants and antiplatelet agents do not interfere with this test • Hydroxyurea and other sickle cell treatments should be continued as normal
- Patient Preparation Requirements: • Wear comfortable, loose-fitting clothing to facilitate blood draw • Inform phlebotomist of easy or difficult veins • Remain calm during blood collection • No special pre-test preparation needed • Bring identification and insurance information
- Special Circumstances: • Newborns: screening typically done on newborn screening cards (blood from heel stick) • Recent transfusion: inform lab - may affect results for 3-4 weeks • Severe anemia: may not significantly affect test validity • Active vaso-occlusive crisis: test can still be performed safely • No need to postpone testing for acute illness
- Sample Type: Venous blood (EDTA tube) or capillary blood for newborn screening • Small volume required (1-2 mL for routine testing) • Sample stability generally good for 24-48 hours at room temperature

How our test process works!