Diseases & Conditions


Human leukocyte antigen test

Definition The human leukocyte antigen test, also known as HLA, is a test that detects antigens (genetic markers) on white blood cells. There are four types of human leukocyte antigens: HLA-A, HLA-B, HLA-C, and HLA-D. Purpose The HLA test is used to provide evidence of tissue compatibility typing of tissue recipients and donors. It is also an aid in genetic counseling and in paternity testing. Precautions This test may have to be postponed if the patient has recently undergone a transfusion. Description Human leukocyte antigen (leukocyte is the name for white blood cell, while antigen refers to a genetic marker) is a substance that is located on the surface of white blood cells. This substance plays an important role in the body's immune response. Because the HLA antigens are essential to immunity, identification aids in determination of the degree of tissue compatibility between transplant recipients and donors. Testing is done to diminish the likelihood of rejection after transplant, and to avoid graft-versus-host disease (GVHD) following major organ or bone marrow transplantation. It should be noted that risk of GVHD exists even when the donor and recipient share major antigens. As an example, it was recently discovered that a mismatch of HA-1 (a minor antigen) was a cause of GVHD in bone marrow grafts from otherwise HLA-identical donors. HLA can aid in paternity exclusion testing, a highly specialized area of forensic medicine. To resolve cases of disputed paternity, a man who demonstrates a phenotype (two haplotypes: one from the father and one from the mother) with no haplotype or antigen pair identical to one of the child's is excluded as the father. Conversely, a man who has one haplotype identical to one of the child's may be the father (the probability varies with the appearance of that particular haplotype in the population). Because of the issues involved, this type of testing is referred to experts. Certain HLA types have been linked to diseases, such as rheumatoid arthritis, multiple sclerosis, serum lupus erythematosus, and other autoimmune disorders. By themselves, however, none of the HLA types are considered definitive. Because the clinical significance of many of the marker antigens has not yet been well defined, definitive diagnosis of disease is obtained by the use of more specific tests. Preparation The HLA test requires a blood sample. There is no need for the patient to be fasting (having nothing to eat or drink) before the test. Risks Risks for this test are minimal, but may include slight bleeding from the blood-drawing site, fainting or feeling lightheaded after venipuncture, or hematoma (blood accumulating under the puncture site). Normal results Identification of specific leukocyte antigens, HLA-A, HLA-B, HLA-C and HLA-D. Abnormal results Incompatible groups between organ donors and recipients may cause unsuccessful tissue transplantation. Certain diseases have a strong association with certain types of HLAs, which may aid in genetic counseling. For example, Hashimoto's thyroiditis (an autoimmune disorder involving underproduction by the thyroid gland) is associated with HLA-DR5, while B8 and Dw3 are allied with Graves' disease (another autoimmune disorder, but with overproduction by the thyroid gland). Hereditary hemochromatosis (too much iron in the blood) is associated with HLA-A3, B7, and B14. HLA-A3 is found in approximately 70% of patients with hemochromatosis, but as is the case with other HLA-associated disorders, the expense of HLA typing favors use of other tests. In cases of suspected hemochromatosis, for example, diagnosis is better aided by two tests called transferrin saturation and serum ferritin. Key Terms Autoimmune disorders A disorder caused by a reaction of an individual's immune system against the organs or tissues of the body. Autoimmune processes can have different results: slow destruction of a particular type of cell or tissue, stimulation of an organ into excessive growth, or interference in function. Haplotype A set of alleles (an alternative form of a gene that can occupy a particular place on a chromosome) of a group of closely linked genes which are usually inherited as a unit. Phenotype 1) The entire physical, biochemical, and physiologic makeup of an individual, as opposed to genotype. 2) The expression of a single gene or gene pair.