What is alpha-globin common mutation?
Alpha-Globin Common Mutation Analysis – Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from mild abnormalities of erythrocytic indices to severe anemia. Genetic counseling may be advised for some patients.
What is alpha-globin gene deletion?
The loss or inactivation of three al- pha-globin genes results in a form of alpha-thalassemia known as hemo- globin H (Hb H) disease. Hb H disease has a variable phe- notype. Hb H disease caused by deletions in the alpha-globin gene locus is associated with moderate anemia, microcytosis, and hypochro- mia.
What is the labcorp test code for hemoglobin electrophoresis?
121690: Hemoglobinopathy Fractionation Cascade | Labcorp.
How do you test for alpha thalassemia?
The following blood tests are done to check for the condition and to tell if you are a carrier and can pass the disorder on to your children:
- Complete blood count (CBC). This test checks the size, number, and maturity of different blood cells in a set volume of blood.
- Hemoglobin electrophoresis.
- Ferritin.
- DNA testing.
Is alpha thalassemia an autoimmune disease?
Key points about alpha thalassemia A thalassemia is an inherited blood disorder. It causes the body to make less hemoglobin than normal.
What conditions can be diagnosed with hemoglobin electrophoresis?
Hemoglobin electrophoresis measures hemoglobin levels and looks for abnormal types of hemoglobin. It’s most often used to help diagnose anemia, sickle cell disease, and other hemoglobin disorders.
What type of mutation is alpha thalassemia?
Alpha thalassemia is caused by mutations in two different genes, the HBA1 and the HBA2 genes. Most individuals inherit two copies of each gene (for a total of four genes); one of each from a person’s father, and one of each gene from a person’s mother.
How common is alpha thalassemia trait?
This is called the trans form of alpha thalassemia trait. The trans form of alpha thalassemia trait (α-/α-) is common in African-Americans (20–30 percent) and people of African descent. 2. People with the second type of alpha thalassemia trait have 2 missing alpha globin genes on the same chromosome (αα/–).
What does hemoglobin electrophoresis test for?
What is alpha-globin common mutation analysis?
Alpha-Globin Common Mutation Analysis – Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from mild abnormalities of erythrocytic indices to severe anemia. Genetic counseling may be advised for some patients.
Is the LabCorp beta-thalassemia test approved by the FDA?
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants. β-Thalassemia is a typically autosomal-recessive form of severe anemia.
What does the α-globin test detect?
This test is designed to detect copy-number changes in the α-globin gene cluster (deletions and duplications) of 28 different sequences in the HBA region. In addition, the assay detects the presence of the Constant Spring (Hb CS) mutation. Other point mutations, and variants in other genes, will not be detected by this assay.