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Hemoglobinopathies
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Hemoglobin variant analysis.
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Hemoglobinopathies
- Why is it done?
- Detects inherited disorders of hemoglobin structure and production, including sickle cell disease, thalassemia, and other abnormal hemoglobins
- Performed during newborn screening programs to identify hemoglobin variants early and allow for prompt intervention
- Indicated in patients with symptoms suggestive of hemoglobinopathy such as recurrent pain crises, chronic hemolytic anemia, or unexplained jaundice
- Used for family screening and genetic counseling when hemoglobinopathy is identified in a relative
- Ordered when evaluating anemia of unknown etiology or abnormal complete blood count findings
- Performed in patients with ethnic backgrounds at higher risk for hemoglobinopathies (African, Mediterranean, Asian, Middle Eastern descent)
- Normal Range
- Normal hemoglobin pattern: Hemoglobin A (HbA) - adult normal hemoglobin comprises approximately 95-98% of total hemoglobin
- Hemoglobin A2 (HbA2): 2-3% of total hemoglobin - present in all adults to a small degree
- Hemoglobin F (HbF): <1% in adults and older children; up to 70-80% in newborns, declining over first year of life
- Negative result: No abnormal hemoglobins detected; no sickle hemoglobin or thalassemia trait present
- Test methodology: Results reported as percentages by hemoglobin electrophoresis or high-performance liquid chromatography (HPLC)
- Interpretation
- Hemoglobin S (HbS) present: Indicates sickle cell trait (heterozygous) if 20-40% HbS present; sickle cell disease (homozygous) if >80% HbS with minimal HbA
- Elevated Hemoglobin A2 (>3%): Suggestive of beta-thalassemia trait; HbA2 >3.5% is particularly indicative
- Elevated Hemoglobin F (>1% in adults): May indicate beta-thalassemia, hereditary persistence of fetal hemoglobin, or other hemoglobinopathies
- Hemoglobin C, E, or D detected: Indicates specific hemoglobinopathy; significance depends on percentage and combination with other hemoglobins
- HbS + HbF pattern: May indicate sickle cell disease; if HbF is very high (>20%), suggests favorable prognosis with fewer complications
- HbS + HbC pattern: Indicates sickle-hemoglobin C disease; typically less severe than sickle cell disease but still requires management
- Clinical correlation essential: Hemoglobinopathy test results must be interpreted with clinical presentation, family history, and other laboratory findings including CBC and reticulocyte count
- Factors affecting interpretation: Recent transfusion, bone marrow transplant, or transfusion therapy can alter results and should be communicated to the laboratory
- Associated Organs
- Blood and hematopoietic system: Primary site of hemoglobin production; abnormal hemoglobin leads to hemolytic anemia and reduced red blood cell lifespan
- Spleen: Becomes enlarged (splenomegaly) as it works to remove damaged red blood cells; at risk for splenic infarction in sickle cell disease
- Liver: Accumulates iron over time from chronic hemolysis and transfusions; risk for cirrhosis and hepatic dysfunction
- Heart: Compensatory cardiac hypertrophy develops from chronic anemia; increased risk of congestive heart failure and arrhythmias
- Lungs: Acute chest syndrome and pulmonary hypertension complications in sickle cell disease; chronic hypoxia may develop
- Brain: Risk of stroke and cerebral infarction due to vaso-occlusion in sickle cell disease; particularly high in children
- Kidneys: Chronic kidney disease and proteinuria from sickling in renal vessels; hematuria may occur
- Bones: Osteonecrosis (bone death) and osteoporosis common; pain crises often involve bone infarction
- Eyes: Retinopathy and proliferative eye disease with risk of blindness in sickle cell disease
- Follow-up Tests
- Complete Blood Count (CBC): Assess degree of anemia, reticulocyte count, white blood cell and platelet levels
- Peripheral blood smear: Visualize red blood cell morphology, sickling patterns, target cells, or other characteristic findings
- Reticulocyte count: Evaluate bone marrow response to anemia and assess hemolysis severity
- Bilirubin (total and indirect): Measure degree of hemolysis; elevated in chronic hemolytic anemias
- Lactate dehydrogenase (LDH) and haptoglobin: Markers of hemolysis; LDH elevated, haptoglobin decreased in hemolytic processes
- Iron studies and ferritin: Assess iron overload in patients with chronic hemolysis or frequent transfusions
- Genetic testing/DNA analysis: Confirm diagnosis, identify specific mutations, and facilitate genetic counseling for families
- Transcranial Doppler ultrasound: Screen for cerebrovascular disease risk in sickle cell disease patients
- Liver and kidney function tests: Monitor organ involvement and complications in hemoglobinopathy patients
- Ongoing monitoring: Annual or biannual hemoglobin electrophoresis may be repeated to track disease progression or response to therapy in diagnosed patients
- Fasting Required?
- No fasting required: Hemoglobinopathy testing does not require fasting; patient can eat and drink normally before the test
- No medication restrictions: Routine medications do not need to be withheld prior to hemoglobin electrophoresis or HPLC testing
- Sample collection: Simple blood draw via venipuncture; typically collected in EDTA (ethylenediaminetetraacetic acid) tube
- Timing consideration: If patient has received blood transfusion, inform laboratory as it may affect results; may need to wait 3-4 months for accurate hemoglobin pattern
- Newborn screening: For newborns, sample collected from heel prick on filter paper card within first few days of life
- No special preparation needed: Patient should arrive well-hydrated but this is not a specific requirement for the test
How our test process works!
