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Beta-Thalassemia Screenig with Graph

Anemia
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Report in 12Hrs

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At Home

nofastingrequire

No Fasting Required

Details

Beta-Thalassemia is a genetic blood disorder caused by mutations in the β-globin gene, leading to reduced or absent synthesis of β-globin chains in hemoglobin. This results in anemia and ineffective erythropoiesis

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Beta-Thalassemia Screening with Graph

  • Why is it done?
    • Detects abnormal hemoglobin patterns characteristic of beta-thalassemia trait (heterozygous) and beta-thalassemia major (homozygous) through hemoglobin electrophoresis
    • Identifies presence of hemoglobin A2 (HbA2) and fetal hemoglobin (HbF) patterns that are elevated in beta-thalassemia
    • Used for carrier screening in at-risk populations and ethnic groups with higher prevalence (Mediterranean, African, Middle Eastern, and Asian descent)
    • Performed during prenatal screening and newborn screening programs to identify affected or carrier infants
    • Indicated in patients presenting with anemia, microcytosis, or family history of thalassemia
    • Ordered as part of genetic counseling and reproductive planning for couples with known thalassemia mutations
  • Normal Range
    • Normal Hemoglobin Pattern (Negative Result): • Hemoglobin A (HbA): 95-98% of total hemoglobin • Hemoglobin A2 (HbA2): 2-3.5% of total hemoglobin • Hemoglobin F (HbF): <1% of total hemoglobin (in adults) • No abnormal hemoglobin bands detected on electrophoresis graph
    • Beta-Thalassemia Trait (Heterozygous - Positive Result): • Hemoglobin A (HbA): 70-95% of total hemoglobin • Hemoglobin A2 (HbA2): 4-6% of total hemoglobin (elevated) • Hemoglobin F (HbF): 0-2% of total hemoglobin • Graph shows characteristic HbA2 peak elevation
    • Beta-Thalassemia Major (Homozygous - Positive Result): • Hemoglobin A (HbA): Absent or <5% of total hemoglobin • Hemoglobin A2 (HbA2): 4-10% of total hemoglobin (elevated) • Hemoglobin F (HbF): >10% of total hemoglobin (markedly elevated) • Graph shows distinctive pattern with HbF and HbA2 peaks, minimal HbA
    • Units: Percentages (%) of total hemoglobin concentration, measured via capillary electrophoresis or high-performance liquid chromatography (HPLC)
  • Interpretation
    • Negative Result (Normal): • Individual does not carry beta-thalassemia mutation • HbA2 and HbF levels within normal limits • Electrophoresis graph shows typical normal hemoglobin pattern • No risk of transmitting beta-thalassemia to offspring (unless partner is a carrier)
    • Beta-Thalassemia Trait (Carrier): • Individual carries one mutated beta-globin gene • Typically asymptomatic or mildly symptomatic with mild anemia • HbA2 elevation (>3.5%) is hallmark finding and primary diagnostic indicator • Graph shows elevated HbA2 peak at characteristic position • 50% chance of passing mutated gene to each child • Partner screening recommended for reproductive counseling
    • Beta-Thalassemia Major (Homozygous): • Individual carries two mutated beta-globin genes • Severe hemolytic anemia requiring regular transfusions (transfusion-dependent) • Marked elevation of HbF (>10%) is characteristic finding • Markedly reduced or absent HbA • Elevated HbA2 usually present • Graph displays distinctive pattern with prominent HbF peak • Requires immediate medical management and specialty care
    • Factors Affecting Results: • Recent blood transfusion may temporarily suppress HbF and cause false-negative results • Hereditary persistence of fetal hemoglobin (HPFH) causes HbF elevation but normal HbA2 • Concurrent iron deficiency may mask thalassemia trait findings • Hemoglobin H disease and other hemoglobinopathies have different electrophoresis patterns • Age of patient (newborn vs. adult) affects HbF levels • Pregnancy may slightly elevate HbF levels • Recent splenectomy or transfusion history should be noted
    • Clinical Significance of Graph Patterns: • Single prominent HbA peak with no other bands = normal result • Elevated HbA2 peak with normal HbF = beta-thalassemia trait diagnosis • Elevated HbF peak with reduced HbA = beta-thalassemia major • Multiple abnormal peaks or unusual patterns warrant DNA sequencing confirmation • Graph resolution and interpretation requires expertise; specialist review recommended for borderline cases
  • Associated Organs
    • Primary Organ System: • Hematopoietic system (bone marrow) - primary site of abnormal hemoglobin production • Red blood cells (erythrocytes) - contain defective hemoglobin • Peripheral blood circulation - affected by abnormal RBC function
    • Secondary Organ Systems Affected in Beta-Thalassemia Major: • Spleen - massive splenomegaly develops due to excessive destruction of defective RBCs • Liver - cirrhosis and hepatomegaly from iron overload and chronic hemolysis • Heart - cardiac iron deposition leads to cardiomyopathy and arrhythmias • Endocrine glands - diabetes mellitus from pancreatic iron accumulation, hypogonadism • Bones - osteoporosis and pathological fractures from bone marrow expansion • Kidneys - chronic kidney disease from iron deposition • Brain - increased stroke risk from chronic hemolysis and anemia • Pituitary gland - growth hormone deficiency and puberty disorders
    • Diseases Diagnosed or Confirmed by This Test: • Beta-thalassemia major (Cooley's anemia) - severe form requiring lifelong management • Beta-thalassemia trait (thalassemia minor) - carrier state • Genetic carrier status in populations of Mediterranean, African, and Asian descent • Differentiation from iron deficiency anemia (similar presentation) • Identification of couples at risk for affected offspring
    • Potential Complications with Abnormal Results: • Chronic hemolytic anemia leading to tissue hypoxia • Iron overload (hemochromatosis) from repeated transfusions causing multi-organ failure • Aplastic crisis with severe anemia and reticulocytopenia • Acute stroke from vaso-occlusion • Pulmonary hypertension and right heart failure • Gallstones and cholecystitis from bilirubin metabolism • Leg ulcers and recurrent infections • Increased thrombotic risk requiring anticoagulation • Reproductive complications including infertility
  • Follow-up Tests
    • Confirmatory and Diagnostic Tests: • DNA mutation analysis and genetic sequencing - identifies specific beta-globin mutations for definitive diagnosis and genetic counseling • Complete blood count (CBC) - assesses hemoglobin level, MCV (microcytosis typically present), red cell distribution width • Iron studies - serum iron, ferritin, TIBC for detection of iron overload in beta-thalassemia major • Reticulocyte count - elevated due to chronic hemolysis • Peripheral blood smear - shows target cells, anisopoikilocytosis • Osmotic fragility test - abnormal in thalassemia
    • Monitoring Tests for Beta-Thalassemia Major (Every 3-6 Months): • Regular CBC and reticulocyte count to monitor anemia severity • Serum ferritin and transferrin saturation - assess iron overload progression • Liver function tests (AST, ALT, bilirubin) - monitor hepatic function and cirrhosis • Renal function tests (creatinine, BUN) - assess kidney function • Cardiac biomarkers (troponin, BNP) - screen for cardiac involvement • Lactate dehydrogenase (LDH) and indirect bilirubin - assess hemolysis severity • Fasting glucose and HbA1c - screen for diabetes
    • Imaging and Specialized Studies: • Cardiac MRI with T2* imaging - assess cardiac iron overload annually • Liver MRI with R2* imaging - assess hepatic iron content • Echocardiography - evaluate cardiac function and structure • Abdominal ultrasound - assess spleen and liver size, fibrosis • Bone density scan (DEXA) - monitor osteoporosis risk • Doppler ultrasound - assess for stroke risk and vasculopathy
    • Genetic and Reproductive Testing: • Partner's hemoglobin electrophoresis - determine risk of affected offspring if carrier identified • Prenatal diagnosis via amniocentesis or chorionic villus sampling (CVS) - identify affected fetuses • Preimplantation genetic testing (PGT) - select unaffected embryos during IVF • Non-invasive prenatal testing (NIPT) - assess fetal DNA for beta-thalassemia mutations
    • Monitoring Frequency: • Beta-thalassemia trait: One-time confirmatory testing, annual monitoring if desired • Beta-thalassemia major: CBC and iron studies every 3 months; organ-specific imaging annually or semi-annually based on clinical status • Pregnant women who are carriers: Repeat testing each trimester and partner screening before delivery
  • Fasting Required?
    • Fasting Requirement: No
    • Fasting is not required for hemoglobin electrophoresis or HPLC testing for beta-thalassemia screening. The test can be performed at any time regardless of food intake.
    • Patient Preparation Instructions: • No special dietary restrictions needed • Normal activities can be maintained before testing • Medications do not need to be withheld • Continue regular medications as prescribed by physician
    • Sample Collection Requirements: • Blood draw from antecubital vein (arm) • Minimal discomfort, minimal blood volume required (typically 2-3 mL) • No tourniquet discomfort expected • Sample collected in EDTA tube (lavender top) for complete blood count • Test can be performed from capillary blood in newborn screening programs
    • Important Timing Considerations: • Avoid blood draws within 3 months of blood transfusion if possible (transfusions suppress results) • If recent transfusion unavoidable, notify laboratory for result interpretation • Inform healthcare provider of recent transfusions, splenectomy, or medical procedures • Newborn screening ideally performed 24-48 hours after birth • Prenatal screening typically performed during second trimester (15-22 weeks)
    • Medications and Supplements: • No medications need to be discontinued before testing • Iron supplements do not interfere with results • Folic acid supplementation can be continued • Chelation therapy (for iron overload) should be continued as prescribed • Hydroxyurea and other thalassemia medications do not require discontinuation • All current medications should be reported to laboratory staff

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