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How Do People Get Thalassemia
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Alpha thalassemia testing. Prince George Quesnel. Alternative Test Names. Screening for alpha-thalassemia is focused on prenatal counseling and diagnosis and on newborn screening.
Alpha Thalassemia is one of the most common inherited hemoglobinopathies and can occur in all ethnic groups but is more common in those of Southeast Asian descent. Genetic testing is used to make a diagnosis of alpha thalassemia. Remember everyone has two copies of these genes known as alleles.
DNA testing may also be necessary in order to allow for the option of prenatal testing. Being a silent carrier means you dont have signs of the disease but you can pass the damaged gene on to your child. Each person has two copies of each of these genes called alleles in their cells one from their mother and one from their father.
Alpha thalassemia silent carrier. One gene is missing or damaged and the other 3 are normal. Alpha thalassemia is the result of deficient or absent synthesis of alpha globin chains leading to excess beta globin chains.
To meet the unique needs of each provincial healthcare system and our lab facilities across the county please refer to the instructions for the province in which you are located. 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. 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.
Detects common rare and novel deletions or duplications in the α-globin gene cluster and its HS-40 regulatory region. Your red blood cells may be smaller than normal. Alpha globin chain production is controlled by two genes on each.
This is confirmed by DNA tests. Thats why we need to ensure that all samples are collected and handled in a way that protects the testing integrity. 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.
Genetic counseling and pregnancy testing Patients with the appropriate ethnic background ie Chinese Taiwanese Southeast Asian Mediterranean. One of the functions of alleles is governing the production of alpha-globin. Aged 88 88 Filter by.
The patient should be screened first by requesting a CBC and. Genetic aspects 87 87 Filter by. DNA testing is the only way to determine silent alpha thalassemia trait and the related hemoglobin trait called hemoglobin Constant Spring.
ALPHA THALASSEMIA DELETIONS ALPHA THALASSEMIA DNA ALPHA THALASSEMIA MOLECULAR SCREEN. 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. China 89 89 Filter by.
These alleles govern alpha globin production and if mutations lead to functional loss of one or more of alpha genes alpha thalassemia. Alpha-thalassemia - pathology 90 90 Filter by. The best test for detecting the abnormal hemoglobin of alpha-thalassemia is called high performance liquid chromatography HPLC or electrophoresis.
Blood tests are usually normal. Molecular genetic testing can detect mutations in the HBA1 and HBA2 genes known to cause the disorder but is available only as a diagnostic service through specialized laboratories. Hemoglobin electrophoresis is used to diagnose beta thalassemia.
Occasionally DNA testing that directly examines the alpha andor beta globin genes is necessary. Molecular genetic testing can confirm a diagnosis of alpha thalassemia. There are 4 types of alpha thalassemia.
The main molecular test available for alpha thalassemia helps confirm common mutations such as deletions. The primary molecular test available for alpha thalassemia detects common mutations eg deletions in the two alpha genes HBA1 and HBA2. More than 95 of recognized α-thalassemia involves deletion of one or both α-globin genes from chromosome 16p133.
