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Thalassemia Profile - Comprehensive

Blood

60 parameters

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Report in 12Hrs

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At Home

nofastingrequire

No Fasting Required

Details

Hb electrophoresis + genetic testing.

₹1,999₹2,989

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Parameters

  • List of Tests
    • Calcium
    • SGOT
    • SGPT
    • PTH-Intact
    • 25 OH Vitamin D
    • Cortisol
    • Ferritin
    • HBsAg
    • BUN, Creatinine, BUN/Creatinine Ratio
    • Hemoglobinopathies Profile - HbF/HbS - Band - F/A/S/C/E/A2/D/Unknown
    • Anti Hepatitis C Virus (HCV)
    • HIV I & II (IVth Gen, Card, ELISA)
    • Iron Studies (Iron, TIBC, Transferrin Saturation)
    • Serum Bilirubin (Direct, Indirect, Total)
    • Thyroid Profile (Total T3, Total T4, TSH)
    • CBC - Complete Hemogram (28)

Thalassemia Profile - Comprehensive

  • Why is it done?
    • Comprehensive diagnosis and monitoring of thalassemia, a genetic blood disorder characterized by reduced or abnormal hemoglobin production
    • Assessment of hemoglobin variants and abnormalities through hemoglobinopathies profiling to identify specific thalassemia types (Alpha, Beta, Hb S, Hb C, Hb E, Hb D)
    • Evaluation of iron overload complications from chronic transfusions, common in thalassemia management
    • Detection of secondary organ damage including hepatic, renal, endocrine, and metabolic complications
    • Screening for transfusion-transmitted infections (HIV, Hepatitis B, Hepatitis C) in patients requiring regular blood transfusions
    • Assessment of anemia severity and red blood cell parameters through complete hemogram
    • Monitoring of bone health through calcium, vitamin D, and PTH measurements due to increased osteoporosis risk
    • Evaluation of endocrine function and hypothyroidism risk from iron deposition in glandular tissues
    • Baseline assessment for newly diagnosed thalassemia patients and ongoing monitoring in established cases
    • Assessment of liver and kidney function impairment from iron toxicity and disease complications
  • Normal Range
    • Calcium: 8.5-10.2 mg/dL or 2.12-2.55 mmol/L (ionized: 4.5-5.3 mg/dL)
    • SGOT (AST): 10-40 IU/L or 0.17-0.67 μkat/L
    • SGPT (ALT): 7-56 IU/L or 0.12-0.93 μkat/L
    • PTH-Intact: 15-65 pg/mL or 1.6-6.9 pmol/L
    • 25 OH Vitamin D: 30-100 ng/mL or 75-250 nmol/L (sufficient), <20 ng/mL indicates deficiency
    • Cortisol (morning): 10-20 μg/dL or 275-555 nmol/L
    • Ferritin: 30-300 ng/mL (males), 15-200 ng/mL (females) or 67-677 pmol/L (males), 34-450 pmol/L (females)
    • HBsAg: Negative (non-reactive)
    • BUN: 7-20 mg/dL or 2.5-7.1 mmol/L
    • Creatinine: 0.7-1.3 mg/dL or 62-115 μmol/L (males), 0.6-1.1 mg/dL or 53-97 μmol/L (females)
    • BUN/Creatinine Ratio: 10:1 to 20:1
    • Hemoglobinopathies Profile - HbF (Fetal Hb): <1% in adults; HbS: Absent (0%) in non-carriers; HbA: 95-98% in normal adults; HbA2: 2-3.5% in normal adults; HbC, HbE, HbD: Absent in normal individuals
    • Anti-HCV: Negative (non-reactive)
    • HIV I & II (4th Gen ELISA): Negative (non-reactive)
    • Iron Studies - Serum Iron: 60-170 μg/dL or 10.74-30.43 μmol/L
    • TIBC (Total Iron Binding Capacity): 250-425 μg/dL or 44.75-76.05 μmol/L
    • Transferrin Saturation: 20-50%
    • Serum Bilirubin - Total: 0.1-1.2 mg/dL or 1.7-20.5 μmol/L
    • Direct Bilirubin: 0.0-0.3 mg/dL or 0-5.1 μmol/L
    • Indirect Bilirubin: 0.1-0.9 mg/dL or 1.7-15.4 μmol/L
    • Thyroid Profile - Total T3: 80-180 ng/dL or 1.23-2.77 nmol/L
    • Total T4: 5.0-12.0 μg/dL or 64.4-154.3 nmol/L
    • TSH: 0.4-4.0 mIU/L or 0.4-4.0 mU/L
    • CBC - Hemoglobin: 13.5-17.5 g/dL or 135-175 g/L (males), 12.0-15.5 g/dL or 120-155 g/L (females); Hematocrit: 41-53% (males), 36-46% (females); RBC: 4.5-5.9 × 10⁶/μL (males), 4.1-5.1 × 10⁶/μL (females); WBC: 4.5-11.0 × 10³/μL; Platelets: 150-400 × 10³/μL; MCV: 80-100 fL; MCH: 27-33 pg; MCHC: 32-36 g/dL
  • Interpretation
    • CBC Hemoglobin Low: Indicates anemia severity; in thalassemia typically 7-10 g/dL in major form, reflects chronic hemolysis and bone marrow suppression
    • CBC Low MCV: Microcytic anemia common in thalassemia (<75 fL indicates severe microcytosis); characteristic finding in beta-thalassemia
    • CBC Elevated RDW: Indicates high red cell distribution width, reflecting anisocytosis and abnormal RBC morphology
    • Hemoglobinopathies Profile - HbF Elevated: >10% in thalassemia major (fetal hemoglobin compensation); HbF percentage correlates inversely with disease severity
    • Hemoglobinopathies Profile - HbA2 Elevated: >3.5% (typically 4-6%) in beta-thalassemia trait and major form; diagnostic marker
    • Hemoglobinopathies Profile - HbS Present: Indicates sickle cell disease or trait; if HbS >50% suggests sickle cell disease (SS genotype)
    • Hemoglobinopathies Profile - HbC or HbE Present: May indicate co-inheritance with beta-thalassemia (HbE/beta-thalassemia) or presence of variant hemoglobinopathy
    • Ferritin Elevated: >300 ng/mL indicates iron overload from transfusions or ineffective erythropoiesis; >500-1000 ng/mL suggests significant hemosiderosis risk
    • Iron Studies - Serum Iron Elevated: >170 μg/dL indicates iron overload; combined with elevated ferritin suggests secondary hemochromatosis
    • Transferrin Saturation Elevated: >50% indicates saturated iron binding capacity; suggests iron overload and increased risk of organ damage
    • Bilirubin Elevated: Elevated indirect bilirubin (>1.0 mg/dL) indicates chronic hemolysis; direct hyperbilirubinemia suggests hepatic involvement
    • SGOT and SGPT Elevated: >2-3 times normal suggests hepatic iron deposition, viral hepatitis, or cirrhosis in chronically transfused patients
    • Creatinine Elevated: >1.3 mg/dL indicates renal dysfunction from iron deposition or chronic hypoxia; marker of disease-related organ damage
    • BUN Elevated: >20 mg/dL indicates renal impairment; should be interpreted with creatinine for kidney function assessment
    • Calcium Low: <8.5 mg/dL indicates hypocalcemia; associated with vitamin D deficiency and secondary hyperparathyroidism in thalassemia
    • Vitamin D Deficiency: <20 ng/mL indicates severe deficiency; 20-29 ng/mL indicates insufficiency; associated with osteoporosis in thalassemia
    • PTH Elevated: >65 pg/mL indicates secondary hyperparathyroidism from vitamin D deficiency and hypocalcemia
    • TSH Elevated: >4.0 mIU/L indicates primary hypothyroidism from iron deposition in thyroid gland; common in transfused thalassemia patients
    • Total T4 Low: <5.0 μg/dL with elevated TSH indicates overt hypothyroidism; requires thyroid hormone replacement
    • Cortisol Low: <10 μg/dL may indicate adrenal insufficiency from iron deposition; clinical correlation with symptoms required
    • HBsAg Positive: Indicates hepatitis B infection; critical finding requiring immediate management and evaluation for cirrhosis
    • Anti-HCV Positive: Indicates hepatitis C exposure; confirms HCV infection in most cases, requiring RNA confirmation and treatment consideration
    • HIV I & II Positive: Indicates HIV infection; requires confirmatory testing (Western blot or HIV RNA) and specialist referral
  • Associated Organs
    • CBC - Bone Marrow: Evaluates erythropoiesis and hematopoietic function; abnormal results indicate ineffective erythropoiesis in thalassemia
    • Hemoglobinopathies Profile - Blood: Identifies specific hemoglobin abnormalities; central to thalassemia diagnosis and classification
    • Iron Studies & Ferritin - Liver: Primary target organ for iron deposition; elevated ferritin and transferrin saturation indicate hepatic siderosis and cirrhosis risk
    • SGOT and SGPT - Liver: Assess hepatocellular injury from iron overload, viral hepatitis, or cirrhosis; elevated levels indicate hepatic damage
    • Bilirubin - Liver and Red Blood Cells: Elevated indirect bilirubin reflects hemolysis; elevated direct bilirubin indicates hepatic cholestasis
    • Creatinine and BUN - Kidneys: Assess renal function impairment from chronic iron deposition, hypoxia, or transfusion-related complications
    • Calcium - Bones and Kidneys: Low calcium indicates decreased bone mineralization and renal dysfunction from iron deposition
    • Vitamin D - Bones, Kidneys, Intestines: Deficiency results from inadequate sun exposure, malabsorption, or renal dysfunction; contributes to osteoporosis
    • PTH - Parathyroid Glands: Elevated PTH indicates secondary hyperparathyroidism from vitamin D deficiency and hypocalcemia
    • Thyroid Profile - Thyroid Gland: Iron deposition causes hypothyroidism; abnormal TSH and T4 indicate thyroid dysfunction
    • Cortisol - Adrenal Glands: Low cortisol may indicate adrenal insufficiency from iron deposition; requires hormone replacement if confirmed
    • HBsAg - Liver: Positive result indicates hepatitis B infection causing chronic hepatitis, cirrhosis, and hepatocellular carcinoma risk
    • Anti-HCV - Liver: Positive result indicates hepatitis C infection; can cause chronic hepatitis, cirrhosis, and hepatocellular carcinoma
    • HIV I & II - Multiple Organ Systems: HIV infection affects immune system, blood cells, GI tract, CNS, and increases infection risk
  • Follow-up Tests
    • CBC Abnormalities: Repeat CBC every 3-6 months or after transfusions; consider peripheral blood smear for RBC morphology assessment
    • Elevated Ferritin: T2* MRI for cardiac and liver iron quantification; consider DEXA scan for bone density; repeat ferritin every 3 months
    • Iron Overload Confirmed: T2* cardiac MRI to assess iron-induced cardiomyopathy risk; liver function tests every 3-6 months
    • Elevated Transaminases: Abdominal ultrasound to assess liver echotexture; assess for portal hypertension; hepatitis serologies and HCV RNA
    • Elevated Bilirubin: Liver ultrasound; assess for gallstones or biliary sludge; reticulocyte count to confirm hemolysis
    • Renal Dysfunction: Calculate eGFR; repeat BUN and creatinine every 6-12 months; urinalysis to assess for proteinuria
    • Calcium and Vitamin D Abnormalities: DEXA scan for bone density assessment; repeat vitamin D, calcium, and PTH every 6-12 months
    • Vitamin D Deficiency: Initiate vitamin D supplementation; repeat 25 OH vitamin D in 8-12 weeks to assess response
    • Abnormal Thyroid Function: Free T4 and repeat TSH every 6-12 months; start levothyroxine if TSH >5 mIU/L with low T4
    • HBsAg Positive: HBeAg/HBeAb, HBV DNA viral load, liver function tests every 3-6 months; HBV vaccination status review
    • Anti-HCV Positive: HCV RNA confirmation by PCR; hepatitis C genotyping; liver function and fibrosis assessment (FIB-4, AST/platelet ratio)
    • HIV Positive: CD4 count, HIV RNA viral load; antiretroviral therapy (ART) initiation; prophylaxis for opportunistic infections
    • Abnormal Hemoglobinopathies Profile: Genetic counseling; family screening; consider bone marrow transplantation evaluation in eligible patients
    • Low Cortisol: ACTH stimulation test for adrenal reserve; endocrinology referral for cortisol replacement therapy if deficiency confirmed
    • Annual Monitoring Recommendations: CBC, ferritin, liver function tests, renal function, thyroid function, and diabetes screening annually at minimum
  • Fasting Required?
    • Overall: Yes - 8-12 hours fasting is recommended for optimal test accuracy, particularly for iron studies, calcium, glucose (if included), and lipid metabolism
    • CBC (Complete Hemogram): No fasting required - can be drawn anytime; water intake acceptable
    • Hemoglobinopathies Profile: No fasting required - can be drawn anytime; independent of food intake
    • Iron Studies (Iron, TIBC, Transferrin Saturation): Yes - Fasting 8-12 hours mandatory; serum iron shows diurnal variation and food affects levels
    • Ferritin: Recommended fasting 8-12 hours; more reliable fasting measurement; can be drawn non-fasting but consistency important for serial comparisons
    • Liver Function Tests (SGOT, SGPT, Bilirubin): Yes - Fasting 8-12 hours recommended for accurate baseline; post-prandial lipemia can affect results
    • Renal Function (BUN, Creatinine): Yes - Fasting 8-12 hours recommended; ensures baseline hydration status for accurate kidney function assessment
    • Thyroid Profile (T3, T4, TSH): No strict fasting required; can be drawn anytime; results not affected by food intake
    • Calcium: Recommend 8-12 hours fasting; more stable baseline measurement; dietary calcium can transiently affect levels
    • Vitamin D (25 OH Vitamin D): No fasting required; not affected by recent food intake
    • PTH (Parathyroid Hormone): Prefer fasting; early morning blood draw optimal; circadian variation affects PTH levels
    • Cortisol: Yes - Strict fasting and 8 AM morning draw required; cortisol has pronounced diurnal rhythm (peaks at 6-8 AM, lowest at midnight)
    • Serology Tests (HBsAg, Anti-HCV, HIV): No fasting required; can be drawn anytime; food does not affect antibody/antigen detection
    • Medications to Avoid Before Testing: Avoid iron supplements 24-48 hours before iron studies; withhold biotin supplements 24 hours (may affect immunoassays)
    • Medications Affecting Results: Thyroid medications should be taken AFTER blood draw; NSAIDs may elevate liver enzymes; verify medication timing with laboratory
    • Dietary Restrictions: Water intake permitted during fasting; avoid caffeine, alcohol, and strenuous exercise 24 hours before testing
    • Specimen Timing: Early morning draw (6-9 AM) optimal for cortisol and PTH due to circadian variation; consistency in timing important for serial comparisons
    • Special Considerations: Report recent transfusions (affects CBC and iron studies); report supplements (iron, calcium, vitamin D) taken in past 48 hours
    • Patient Position: Remain seated or supine for 5 minutes before blood draw to ensure accurate hemoglobin and hematocrit values
    • Specimen Collection: EDTA tube for CBC and hemoglobinopathies; serum separator tube (SST) for chemistry, iron studies, and serologies; specific tube requirements vary by laboratory

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