Beta-Thalassemia Screenig

Blood

Report in 12Hrs

At Home

No Fasting Required

Details

Screening for hemoglobin disorders.

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Beta-Thalassemia Screening

Why is it done?
- Detects abnormalities in beta-globin gene production and hemoglobin structure to identify beta-thalassemia trait carriers and affected individuals
- Newborn screening programs to identify infants with beta-thalassemia major for early intervention and management
- Carrier screening in individuals from high-risk ethnic populations (Mediterranean, Middle Eastern, African, and Southeast Asian descent)
- Prenatal diagnosis when both parents are identified as carriers or when family history of beta-thalassemia is present
- Diagnosis of patients with unexplained anemia, microcytosis, or hemolytic anemia symptoms
- Premarital or preconception counseling for couples planning pregnancy to assess genetic risk
Normal Range
- Hemoglobin Electrophoresis Values (Normal Adult):
  - Hemoglobin A (HbA): 95-98% (normal beta-globin production)
  - Hemoglobin A2 (HbA2): 2-3.5% (minor population of hemoglobin)
  - Hemoglobin F (HbF): <1% (fetal hemoglobin trace)
- Complete Blood Count (CBC) - Normal Values:
  - Mean Corpuscular Volume (MCV): 80-100 fL (normal red blood cell size)
  - Mean Corpuscular Hemoglobin (MCH): 27-33 pg (normal hemoglobin content)
  - Hemoglobin: 12-16 g/dL for adult females; 13.5-17.5 g/dL for adult males
- Interpretation of Results:
  - Negative/Normal: No beta-thalassemia mutations detected; patient is not a carrier or affected individual
  - Positive: Beta-thalassemia trait (heterozygous) or beta-thalassemia major (homozygous) identified; genetic counseling recommended
Interpretation
- Beta-Thalassemia Major (Homozygous):
  - Both beta-globin genes are defective; little to no normal hemoglobin A production
  - Hemoglobin electrophoresis shows elevated HbF (>90%) and HbA2 (>3.5%), minimal or absent HbA
  - CBC shows severe anemia (Hb <7 g/dL), microcytosis (MCV <70 fL), and hypochromia
  - Clinical presentation: Transfusion-dependent anemia requiring regular blood transfusions, onset typically by 6-12 months of age
- Beta-Thalassemia Trait (Heterozygous/Thalassemia Minor):
  - One normal and one defective beta-globin gene; approximately 50% normal hemoglobin production
  - Hemoglobin electrophoresis shows elevated HbA2 (3.5-7%) and normal to elevated HbF (1-5%), with HbA present
  - CBC shows mild microcytosis (MCV 60-75 fL), mild hypochromia, and normal to slightly low hemoglobin
  - Clinical presentation: Usually asymptomatic or mildly symptomatic; identified as genetic carrier; 50% risk of passing trait to offspring
- Factors Affecting Results:
  - Recent blood transfusion may mask abnormal hemoglobin patterns; test should be performed at least 3-4 months after transfusion
  - Iron deficiency anemia can cause microcytosis and potentially mask thalassemia trait; iron studies should be evaluated
  - Concurrent alpha-thalassemia may alter hemoglobin electrophoresis patterns
  - Newborn age affects results; HbF is normally elevated in infants and must be interpreted in appropriate age context
  - Hemoglobin H disease (alpha-thalassemia) may show similar patterns; DNA sequencing clarifies diagnosis
Associated Organs
- Primary Organ System - Hematopoietic System:
  - Bone marrow: Affected by ineffective erythropoiesis; compensatory hyperplasia leads to bone marrow expansion
  - Red blood cells: Defective hemoglobin production results in abnormal RBC morphology and shortened lifespan
- Secondary Organ Involvement in Beta-Thalassemia Major:
  - Heart: Iron overload (from multiple transfusions) causes iron deposition in myocardium leading to cardiomyopathy, arrhythmias, and heart failure
  - Liver: Iron accumulation causes cirrhosis, fibrosis, and hepatic dysfunction; hemolysis-related hyperbilirubinemia
  - Spleen: Massive splenomegaly develops from extramedullary hematopoiesis and clearance of abnormal RBCs; functional hyposplenism
  - Bones: Bone marrow expansion causes skeletal deformities (frontal bossing, maxillary prominence); osteoporosis and pathologic fractures
  - Pancreas: Iron deposition causes diabetes mellitus (secondary diabetes)
  - Endocrine Glands: Iron-related hypogonadism, hypothyroidism, hypoparathyroidism, growth hormone deficiency
  - Kidneys: Chronic hemolysis leads to hemosiderinuria and renal dysfunction
- Diseases and Conditions Associated with Abnormal Results:
  - Beta-thalassemia major (Cooley's anemia) - life-threatening disorder requiring lifelong management
  - Beta-thalassemia intermedia - moderate hemolytic anemia with variable severity
  - Hemochromatosis complications from iron overload (secondary hemochromatosis)
  - Gallstone disease from chronic hemolysis
  - Leg ulcers from chronic hypoxia and hemolysis
  - Thrombotic events from platelet dysfunction and vascular damage
  - Transfusion-related infections (HIV, hepatitis B and C) from multiple blood transfusions
Follow-up Tests
- Initial Confirmatory Tests:
  - DNA sequencing or genetic testing to identify specific beta-globin gene mutations and confirm diagnosis
  - Complete blood count (CBC) to assess hemoglobin levels, mean corpuscular volume, and red cell indices
  - Iron studies (serum iron, ferritin, transferrin saturation, TIBC) to establish baseline iron status
  - Reticulocyte count to assess bone marrow response and degree of hemolysis
  - Peripheral blood smear to visualize RBC morphology (target cells, anisopoikilocytosis)
- Monitoring Tests for Diagnosed Patients:
  - CBC with differential: Every 3-6 months to monitor anemia severity and transfusion requirements
  - Serum ferritin: Every 1-3 months to assess iron overload and chelation therapy effectiveness
  - Liver function tests (ALT, AST, bilirubin, albumin): Every 3-6 months to detect iron-related hepatic complications
  - T2* MRI cardiac imaging: Annually to assess myocardial iron content and cardiac function
  - T2* MRI hepatic imaging: Annually to evaluate hepatic iron content
  - Echocardiography: Annually to assess cardiac structure and function
- Endocrine Screening:
  - Fasting glucose and HbA1c: Annually to screen for secondary diabetes mellitus
  - Thyroid function tests (TSH, Free T4): Annually to detect hypothyroidism
  - Sex hormone levels (testosterone, FSH, LH): Annually in adolescents and young adults to assess gonadal function
  - Calcium, phosphate, parathyroid hormone: Annually to monitor bone metabolism and parathyroid function
- Other Monitoring Tests:
  - Virologic testing: Screening for HIV, hepatitis B and C (especially in transfusion-dependent patients)
  - Bone density (DEXA scan): Baseline and every 1-2 years to monitor osteoporosis risk
  - Renal function tests (creatinine, BUN, urinalysis): Annually to detect renal complications
  - Abdominal ultrasound: As needed to assess splenomegaly, hepatomegaly, and gallstones
- Genetic Counseling Tests:
  - Partner screening: Beta-thalassemia screening for reproductive partners of identified carriers or affected individuals
  - Prenatal diagnosis: Chorionic villus sampling (CVS) or amniocentesis with DNA testing for at-risk pregnancies
  - Preimplantation genetic diagnosis (PGD) for families undergoing in vitro fertilization
Fasting Required?
- Fasting Required: No
  - Beta-thalassemia screening tests (hemoglobin electrophoresis, CBC, and DNA sequencing) do not require fasting
  - Food and fluid intake do not affect test accuracy or results
- Patient Preparation Requirements:
  - No special preparation is required for beta-thalassemia screening
  - Can eat and drink normally before the test
  - No specific medications need to be stopped before testing
- Important Considerations:
  - If recent blood transfusion has occurred (within 3-4 months), inform healthcare provider as this may affect results
  - Bring identification and insurance information to the testing appointment
  - Newborn screening is typically performed using heel prick blood samples on filter paper, no preparation needed
  - For iron studies conducted concurrently, fasting may be preferred (12 hours) though not always required; clarify with healthcare provider

How our test process works!