Thalassemia Studies Profile Test

Thalassemia studies includes routine CBC test, Iron studies and Abnormal haemoglobin studies for diagnosis of Thalassemia.

Thalassemia patients may often present with the following symptoms:

• Moderate to severe anaemia accompanied with fatigue.
• Pale skin with cold, clammy extremities
• Shortness of breath
• Irregularities of heart.

Certain patients are particularly at high risk:

• Those with family history of thalassemia or abnormal haemoglobinopathies. 
• Patients who are carriers of thalassemia traits.
• Children of Thalassemia trait carriers.

• To diagnose thalassemia (blood disorders) due to abnormal haemoglobin production and iron deficiencies
• To detect and diagnose the genetic or familial component in thalassemia patients.
• As part of routine screening of first degree relatives of thalassemia patients.

This test requires a blood sample. A tourniquet (elastic) band is placed tightly on the upper arm. The patient is then asked to make a fist. This helps in the build-up of blood filling the veins. The skin is disinfected before needle insertion and the blood sample is collected in vacutainer.

No special precautions

CBC

Low to very low haemoglobin levels may be associated with anemias, often seen in Thalassemia patients. Very low levels may require blood transfusions.

Abnormalities in RBC, PCV, MCV , WBC count and platelet count  may require further tests for diagnosis and to monitor the therapy in Thalassemia patients.

Iron Studies

Iron deficiency anaemia: Concentration of Iron and transferrin saturation is decreased, while UIBC, TIBC is increased

Anaemia of chronic disease: Iron is decreased but transferrin saturation, UIBC, TIBC can be normal or decreased

Abnormal Haemoglobin studies

Foetal Haemoglobin

High HbF levels are a result of β-globin gene mutation. In adults high foetal haemoglobin levels may indicate certain blood disorders.

Haemoglobin A0

High A0 level indicates risk of blood disorder in which your bone marrow makes too many red blood cells. Please consult your physician for further analysis and treatment.

Haemoglobin A2

Abnormal Haemoglobin A2 result may indicate blood disorders like thalassemia or certain other haemoglobinopathies. Clinical correlation is required.

Based on the levels of HbF, HbA0 and HbA2, diagnosis of sickle cell anemia, Beta Thalassemia, and other blood disorders can be made.

In case of haemoglobinopathy, DNA Analysis and Genetic counselling is advised.

• Thalassemia test
• Fetal Haemoglobin Test
• Haemoglobin Variant Test
• Iron studies test

Routine blood examination is done to detect any abnormalities in the individual components of blood like WBC, RBC, MCV, Platelets etc. Depending on the abnormality detected further tests may be required.

Measurements of serum iron, TIBC and the percentage of iron saturation of transferrin are useful screening tests for iron deficiency anaemia. This is important for assessing the anaemia status in Thalassemia patients.

Foetal Haemoglobin (HbF)

Foetal haemoglobin is the major haemoglobin present during gestation; it constitutes approximately 60 to 80 percent of total haemoglobin in the full-term newborn. In neonates this test helps to know the level of haemoglobin after birth. In adults this test may be recommended in case of suspected blood disorders.

Haemoglobin A0 (HbA0)

Haemoglobin A0 is prepared from lysed human blood cells by sequential ion-exchange.

Haemoglobin A0 measures haemoglobin levels and helps to detect blood disorder. It's most often used to help diagnose anaemia, sickle cell disease, and other haemoglobin related blood disorders.

Haemoglobin A2 (HbA2)

The normal, and most common, type of haemoglobin is called haemoglobin A. Haemoglobin A2 (HbA2) is a normal variant of haemoglobin A. This test detects Beta thalassaemia and haemoglobinopathies. DNA analysis is recommended to rule out alpha thalassaemia and silent carriers