Alpha Thalassemia Testing

Genetic testing is used to make a diagnosis of alpha thalassemia. In this condition no alpha globin is produced therefore no normal hemoglobin is produced.

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Hemoglobin Electrophoresis To Detect Thalassemia Hemoglobin Electrophoresis test primarily assess the relative amounts and type of hemoglobin present in your red blood cells.

Alpha thalassemia testing. Northern California Comprehensive Thalassemia Center UCSF Benioff Childrens Hospital Oakland 747 52nd Street Oakland CA 94609 Phone. The CBC will reveal a mild to moderate anemia with very small red blood cells. The test also detects extra copies of the HBA genes and the most common non-deletional HBA gene mutation which causes Hb Constant Spring.

One of the functions of alleles is governing the production of alpha-globin. Test reagent kit based on conventional PCR. The main molecular test available for alpha thalassemia helps confirm common mutations such as deletions.

Detects common rare and novel deletions or duplications in the α-globin gene cluster and its HS-40 regulatory region. If the results show a reduced mean corpuscular volume MCV and the parents have a normal iron status not anemic because of iron deficiency then specific testing for hereditary anemias including alpha thalassemia should be performed. One gene is missing or damaged and the other 3 are normal.

The result can have diagnostic and familial implications. Sometimes trait status cannot be determined by these screening tests alone. Alpha Thalassemia Major also called hydrops fetalis 4 genes affected.

Alpha thalassemia silent carrier. Hemoglobin electrophoresis is used to diagnose beta thalassemia. Easy-to-use test kit due to the low effort required to prepare the multiplex PCR master mix.

Diagnostic testing for α thalassemia in fetus with suggestive clinical findings or at risk for α thalassemia due to familial HBA1HBA2 deletions or Hb Constant Spring variant. Many people with alpha thalassemia minor I have no idea. This test detects deletions of the HBA genes which contribute to 90 of alpha thalassaemia diagnoses.

The best test for detecting the abnormal hemoglobin of alpha-thalassemia is called high performance liquid chromatography HPLC or electrophoresis. Thalassemia Mutation Testing refers to the analysis of HBA1 and HBA2 genes for alpha-thalassemia and HBB gene for beta-thalassemia to understand the presence of the mutation and inheritance patterns that lead to thalassemia and other related genes. Preliminary screening of parents for alpha thalassemia is performed by a simple blood test called a complete blood count CBC.

Blood tests are usually normal. Detection of prospective parents at risk for a pregnancy with Hb Bart hydrops fetalis. Your red blood cells may be smaller than normal.

More than 95 of recognized α-thalassemia involves deletion of one or both α-globin genes from chromosome 16p133. Reason for this is that beta thalassemia disturbs the balance of chain formed by. This is the most severe form of alpha thalassemia.

Results may be ambiguous for a variety of reasons. Novel Alpha Thalassemia Test can be used for the detection of Alpha Thalassemia subtypes by addition of DNA sample and processing via thermal cycler using conventional PCR technique. Occasionally alpha thalassemia minor is identified on newborn screen but not in all cases.

About 95 of all alpha-thalassemia is due to gene deletions that are detected by this test detection rates may vary in specific populations. Indications for testing include. The test is positive for Hemoglobin Barts or fast bands.

This is confirmed by DNA tests. Being a silent carrier means you dont have signs of the disease but you can pass the damaged gene on to your child. Individuals with alpha thalassemia trait usually have evidence of microcytosis and normal levels of hemoglobin A2 and F.

An analysis of red blood cells will show that affected individuals will have blood cells that are unusually shaped lighter in color and an increased number of immature blood cells. This usually comes to light during a routine complete blood count CBC. 510 428-3347 Fax.

There are 4 types of alpha thalassemia. Remember everyone has two copies of these genes known as alleles. Studies of iron will indicate whether the cause of the anemia is iron deficiency or thalassemia iron deficiency is not the cause of anemia in people with thalassemias.

Fetuses affected by alpha thalassemia major become anemic early during the pregnancy. DNA analysis of the α-globin region HBA1HBA2 OMIM 141800141850 16pter-16p133 is performed by targeting 28 different sequences using multiplex ligation-dependent probe amplification MLPA.

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