How alpha thalassemia is diagnosed?

Doctors can diagnose alpha thalassemia with blood tests; however, a blood test won’t detect it if someone is a silent carrier. Genetic testing can confirm if you are a silent carrier. Talk to your doctor if you are concerned about alpha thalassemia. They may recommend genetic testing and blood work.

What are the 4 types of alpha thalassemia?

Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged….There are 4 types of alpha thalassemia:

• Alpha thalassemia silent carrier.
• Alpha thalassemia carrier.
• Hemoglobin H disease.
• Alpha thalassemia major.

What tests are used to diagnose alpha and beta thalassemia?

Hemoglobin electrophoresis is used to diagnose beta thalassemia. Genetic testing is used to make a diagnosis of alpha thalassemia.

What is the laboratory diagnosis of the thalassemia?

Thalassemias and abnormal hemoglobin diagnoses require a combination of laboratory tests including the measurement of red blood cell indices by automatic hematology analyzer, Hb analysis, and quantification of Hb A2 and Hb F.

What is alpha thalassemia HBA1 HBA2?

Alpha-thalassemia is an autosomal recessive condition that affects the red blood cells. It can affect people of any ethnicity, but is more common in people who can trace their ancestry to Southeast Asia, India, equatorial Africa, the Mediterranean, or the Arabian Peninsula.

What is thalassemia PDF?

Thalassemia is a genetic blood disorder. Public suffering from this disease is not able to make sufficient hemoglobin in the body, which leads to severe anemia. In people with alpha thalassemia, the hemoglobin does not produce sufficient alpha protein.

What are the 4 types of hemoglobin?

Four different hemoglobin species are commonly recognized: oxyhemoglobin (oxy-Hb), deoxyhemoglobin (deoxy-Hb), methemoglobin (met-Hb), and hemichromes, whose structures appear below. Following this evolutionary transition methemoglobin and hemichromes are enzymatically cleaved into multiple small fragments.

Why HPLC test is done?

This test is done to diagnose blood disorders, as a screening test for genetic conditions, and monitor treatment efficacy in patients having blood disorders. It also detects abnormal hemoglobin types which may interfere with the oxygen flow.

What is Nestroft test?

The NESTROFT method (Naked Eye Single Tube Red Cell Osmotic Fragility Test) was evaluated against a high performance liquid chromatographic (HPLC) method for its usefulness in screening for beta-thalassaemia and some of the common haemoglobinopathies.

What are the differential diagnosis of thalassemia?

These include sickle cell anemia, iron-deficiency anemia, hemolytic anemia, sideroblastic anemia, anemia of chronic disease, vitamin B12 deficiency, and erythropoietin deficiency. It is important to distinguish amongst these conditions, as each condition has different clinical consequences and treatment considerations.

What does high Hemoglobin A2 mean?

Hb A2 levels tend to increase in conditions that delay nuclear maturation of red cell precursors. These conditions are also associated with increased MCV. 1,2. The most common cause of this phenomenon is megaloblastic anemia due to folate and/or vitamin B12 deficiency.

Why is RBC count high in thalassemia?

In beta-thalassemia major, anemia is severe, often with hemoglobin ≤ 6 g/dL (≤ 60 g/L). Red blood cell count is elevated relative to hemoglobin because the cells are very microcytic.

Which two confirmatory tests are used for thalassaemia?

A full blood examination and haemoglobin electrophoresis are the tests which should be used first to investigate a suspected carrier of a thalassaemia gene.

How is thalassemia diagnosed in HPLC?

For the screening of beta-thalassaemia, the measurement of Hb A2 should be done by automated HPLC where a level of Hb A2 > 4.0 would be indicative of classical beta-thalassaemia trait.

What is HPLC in thalassemia?

High-performance liquid chromatography (HPLC) is a technique introduced for the accurate diagnosis of hemoglobinopathies and thalassemias.

What is HPLC test for thalassemia?

HPLC is a sensitive and precise method for the identification of Hb A2, Hb F and abnormal haemoglobins. It has become the method of choice for thalassaemia screening because of its speed and reliability.

What is Hb HPLC test?

Hemoglobin (Hb) electrophoresis by HPLC is used to identify the different types of hemoglobin present in the blood. Hemoglobin is a protein present inside the red blood cells that functions to transport oxygen to the tissues and organs of the body.

What is alpha thalassemia?

Alpha thalassemia is a condition caused by having fewer alpha globin genes than normal. Normally, people have 4 genes for alpha globin. People with alpha thalassemia can be missing one (1), 2, 3, or 4 alpha globin genes. 1. People missing one (1) alpha globin gene (aa/a-) are called silent carriers of alpha thalassemia.

Should I talk to my doctor about my alpha thalassemia symptoms?

People with alpha thalassemia may have no symptoms. Or they may have many symptoms. If you don’t have symptoms, you may still want to see a specialist. He or she can help you understand the risks of passing the disease to your children. If you have symptoms, work with your healthcare provider.

What are the symptoms of different types of thalassemia?

Common symptoms for each type may include: Silent alpha thalassemia carrier. This type has no symptoms. Alpha thalassemia carrier. You may have mild anemia. You may have no symptoms. Or you may have mild symptoms such as mild fatigue or exercise intolerance. Hemoglobin H disease.

How common are thromboembolic events in thalassaemia major and intermedia?

Taher A, Isma’eel H, Mehio G, et al. Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost 2006; 96:488.