What test is required for thalassemia?

If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

How can you tell the difference between iron deficiency and thalassemia?

Distinguishing Iron Deficiency Anemia From Thalassemia Trait The first difference is in the red blood cell count (labeled RBC). In iron deficiency, this value is low because the bone marrow is unable to manufacture red blood cells. In thalassemia trait, RBC is normal to elevated.

At what age thalassemia is detected?

Most children with moderate to severe thalassemia receive a diagnosis by the time they are 2 years old. People with no symptoms may not realize that they are carriers until they have a child with thalassemia. Blood tests can detect if a person is a carrier or if they have thalassemia.

Can NIPT detect thalassemia?

In summary, we developed and verified PBH-NIPT, a novel method for prenatal testing of α-thalassemia and β-thalassemia. Compared with invasive prenatal diagnosis, this method achieved 99.1\% accuracy (95\% CI, 95.1–100\%).

Can thalassemia minor donate blood?

You must not donate blood if you have had babesiosis. You will be permanently deferred. If you have G6PD (Glucose-6-Phosphate Dehydrogenase Deficiency) or Thalassemia (minor), you can donate blood if you meet the haemoglobin requirement.

How do you test for thalassemia in blood?

If you are planning to have children and both you and your partner carry the trait for thalassemia, your future children could be born with thalassemia disease, which is a serious medical condition. Prenatal and other testing options are available to couples found to be at risk for having a baby with the disease.

Can thalassemia cause low platelet count?

Hypersplenism can contribute to anemia in individuals with beta thalassemia and cause low levels of white blood cells, increasing the risk of infection, and low levels of platelets, which can lead to prolonged bleeding.

Why is iron bad for thalassemia?

People with thalassaemia may be advised to avoid iron supplements because they are at risk of iron overload. Carriers of the thalassaemia gene may be asymptomatic but pregnancy can precipitate anaemia and there is a chance that this may be inappropriately treated with iron replacement.

Can thalassemia go undetected?

Many individuals with beta thalassemia minor go through life never knowing they carry an altered gene for the disorder. A beta thalassemia major diagnosis is usually made during the first two years of life and individuals require regular blood transfusions and lifelong medical care to survive.

When is it too late for NIPT test?

NIPT testing is done with a single blood test from your arm. It can be done any time after 10 weeks in pregnancy and is usually done before 21 weeks.

What if NIPT test is positive?

If the result is ‘positive’, ‘abnormal’ or ‘high risk’, this means your baby is likely to be affected. If you have an abnormal NIPT result, a diagnostic test such as CVS or amniocentesis can confirm the result. You should discuss your options with your doctor, midwife or genetic counsellor.