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

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

The Thalassemia test is a series of blood tests and genetic analyses designed to diagnose thalassemia, a genetic disorder affecting hemoglobin production, and to identify carriers of the thalassemia gene.

The Thalassemia test detects abnormalities in the genes responsible for producing hemoglobin, specifically the alpha and beta globin chains. It identifies carriers and diagnosed cases of thalassemia, as well as the severity of the condition.

The reports indicate whether an individual is a carrier or has thalassemia, the type of thalassemia (alpha or beta), and its severity. They also provide information on the genetic mutations involved and the risk of passing the condition to offspring.

A positive test indicates that the individual has thalassemia or is a carrier. This requires further genetic counseling, possible prenatal testing if applicable, and initiation of appropriate treatment and management strategies.

No, hemoglobin levels are not normal in thalassemia. The disorder is characterized by reduced or absent production of normal hemoglobin, leading to anemia.

Thalassemia is often diagnosed in early childhood, typically within the first six months to two years of life for severe forms. Milder forms might be diagnosed later, sometimes after a routine blood test reveals anemia.

The life expectancy for individuals with thalassemia varies depending on the severity and management of the condition. With modern treatment, many individuals with thalassemia major can live into their 40s and 50s.

The benefits include early diagnosis, allowing for timely treatment and management; identification of carriers to inform reproductive decisions; prenatal testing to prepare for potential postnatal care; and family screening to understand genetic risks.

The Thalassemia test is generally a blood test and does not carry significant risks. However, as with any blood test, there may be minor risks such as bruising or infection at the needle site.

The Thalassemia test specifically diagnoses thalassemia, including both alpha and beta types, and identifies carriers of the thalassemia gene.

Medications are unlikely to affect the results of the Thalassemia test, which is focused on genetic and hematological parameters rather than metabolic or pharmacological effects.

Fasting is not typically required for the Thalassemia test, as it involves blood tests that measure hemoglobin and genetic mutations rather than metabolic parameters.

Results can be affected by sample quality, laboratory techniques, and the presence of other hematological conditions. However, these factors are carefully controlled in a reputable laboratory setting to ensure accurate results.

The turnaround time for Thalassemia test reports can vary depending on the laboratory and the complexity of the tests performed. Typically, results are available within 24 hours after the blood sample is collected.