Sorted By Test Name - Mayo Medical Laboratories

AGPB
9499
IDSWB
60618
disease. In The Metabolic Basis of Inherited Disease. Vol 2. 7th edition. Edited by CR Scriver, AL
Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 1995, pp 2741-2784 2. De
Schoenmakere G, Poppe B, Wuyts B, et al: Two-tier approach for the detection of alpha-galactosidase A
deficiency in kidney transplant recipients. Nephrol Dial Transplant 2008;23:4044-4048 3. Spada M,
Pagliardini S, Yasuda M, et al: High incidence of later-onset Fabry disease revealed by newborn
screening. Am J Hum Genet 2006;79:31-40 4. Mehta A, Hughes DA: Fabry Disease. GeneReviews.
Edited by RA Pagon, TD Bird, CR Dolan, et al. University of Washington, Seattle. Last updated March
2011
Alpha-Globin Gene Analysis
Clinical Information: The thalassemias are a group of inherited conditions characterized by
decreased synthesis of 1 or more of the globin chains, resulting in an imbalance in the relative amounts of
the alpha and beta chains. The excess normal chains precipitate in the cell, damaging the membrane and
leading to premature red blood cell destruction. Additionally, the defect in hemoglobin synthesis produces
a hypochromic, microcytic anemia. The frequency of thalassemia is due to the protective advantage
against malaria that it gives carriers. Consequently, thalassemias are prevalent in populations from
equatorial regions in the world where malaria is endemic. Alpha-thalassemia is caused by decreased
synthesis of alpha-globin chains. Four alpha-globin genes are normally present (2 on each chromosome
16). One, 2, 3, or 4 alpha-globin genes may be deleted or, less commonly, contain mutations. Deletions
account for approximately 90% of disease-causing alleles in alpha thalassemia. Phenotypically, these
deletions result in 4 categories of disease expression: -Deletion of 1 alpha-chain: Silent carrier state, with
a normal phenotype -Deletion of 2 alpha-chains: Alpha-thalassemia trait (alpha-1 thalassemia), with mild
hematologic changes but no major clinical difficulties -Deletion of 3 alpha-chains: Hemoglobin H disease,
which is extremely variable but usually includes anemia due to hemolysis, jaundice, and
hepatosplenomegaly -Deletion of all 4 alpha-chains: Hemoglobin Bart, with hydrops fetalis and almost
invariably in utero demise Alpha-thalassemia occurs in all ethnic groups but is especially common
individuals of Southeast Asian and African ancestry. It is also frequent in individuals of Mediterranean
ancestry. The carrier frequency is estimated to be 1 in 20 for Southeast Asians, 1 in 30 for African
Americans, and 1 in 30 to 1 in 50 for individuals of Mediterranean ancestry. Both deletional and
non-deletional (caused by point mutations, which are not detected by this assay) forms of
alpha-thalassemia are found in individuals with Mediterranean ancestry. Deletions in cis (deletions on the
same chromosome) are rare in African or Mediterranean populations, but are prevalent in Asian
populations. Couples in which both partners carry deletions in cis are at risk of having a child with the
fatal hemoglobin Bart hydrops fetalis syndrome.
Useful For: Diagnosis of alpha-thalassemia Prenatal diagnosis of deletional alpha-thalassemia Carrier
screening for individuals from high-risk populations
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Harteveld CL, Voskamp A, Phylipsen M, et al: Nine unknown
rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterized by high
resolution multiplex ligation-dependent probe amplification. J Med Genet 2005; 42:922-931 2. Harteveld
CL, Higgs DR: Alpha-thalassemia. Orphanet J Rare Dis 2010;5:13
Alpha-L-Iduronidase, Blood
Clinical Information: The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders
caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate,
heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans; GAG). Accumulation of
GAG (previously called mucopolysaccharides; MPS) in lysosomes interferes with normal functioning of
cells, tissues, and organs. There are 11 known disorders that involve the accumulation of GAG. MPS
disorders involve multiple organ systems characterized by coarse facial features, cardiac abnormalities,
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