Office of Newborn Screening

Healthcare Providers

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The success of the Newborn Screening program depends on the coordinated efforts of many health professionals. Medical Home and/or other Healthcare Professionals are generally responsible for: ordering the screening tests for newborn infants in their care, informing parents about the screening tests, and collection and handling of newborn screening specimens. Practitioners, and/or their contracted laboratories, may collect and send specimens for testing. Practitioners, hospitals and laboratories work together to coordinate timely collection and rapid delivery of acceptable newborn screening specimens to the Arizona Public Health Laboratory (State Lab).

Disorder Information

These are the original core disorders of the recommended Uniform Screening Panel from the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). In May, 2010 the HHS Secretary endorsed this panel along with the addition of Severe Combined Immunodeficiency (SCID). This panel is recommended for all state newborn screening programs and is also endorsed by the American Academy of Pediatrics and the March of Dimes. Arizona does not yet screen for SCID. Early identification and lifelong treatment of these disorders can help to prevent many of the harmful consequences of the disorders and in many cases affected babies can grow and develop normally.

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Find more information about the following disorders:

Endocrine Disorders

Endocrine disorders occur when one or more of the body's hormones cannot be produced while others are overproduced. Hormones regulate metabolism and are necessary for the normal function of the body's organs.

  • Congenital hypothyroidism (CH)
    • A common*, endocrine condition resulting from deficient thyroid hormone secretion. It is not often an inherited condition and is most commonly caused by a failure of the thyroid gland to develop properly.
    • If undetected, developmental delays, poor growth and mental retardation develop before diagnosis is made and most of this damage is not reversible with treatment. A newborn with CH may have feeding problems, lethargy, hypotonia, jaundice and constipation.
    • Treated with daily oral doses of thyroid hormone. If treatment begins by two weeks of age a baby can develop normally.
    • Risk of this disorder is detected by an immunoassay for elevated thyroid stimulation hormone (TSH).
  • Congenital adrenal hyperplasia -21-hydroxylase deficiency (CAH)
    • A relatively common*, inherited group of disorders (autosomal recessive) marked by deficiency or absence of one or more enzymes essential to the production of adrenal cortex hormones. The enzyme involved most commonly is steroid 21-hydroxylase. This results in the inability to synthesize cortisol, aldosterone or both and also results in an overproduction of adrenal androgens.
    • Symptoms include ambiguous genitalia in girls and in the salt-wasting form of the disorder, vomiting, dehydration, electrolyte imbalances (hyponatremia and hypokalemia), hypotension, shock and even death within 2 weeks of birth.
    • Treated with hormone and electrolyte replacement with possible surgery for virilized females. Early treatment can prevent salt-wasting crises and growth and development problems.
    • Risk of this disorder is detected by an immunoassay for elevated 17a-hydroxyprogesterone (17-OHP).

Hemoglobin Disorders

Hemoglobinopathies are disorders of the red blood cells and in varying degrees affect the transport of oxygen to cells of the body. For further information about traits and disease, or to print a brochure for families, refer to one of the following documents:

The Newborn Screening Case Management Program implemented a new protocol for tracking and management of abnormal results for hemoglobinopathies detected by the newborn screen began February 13, 2012.

The Case Management program will continue to coordinate appropriate follow up with primary care providers, hematologists and families for infants with abnormal results for hemoglobin disorders. However, follow up with families for hemoglobin traits is discontinued. It will be the role of the primary care physician to inform parents about the results.

  • Sickle cell anemia (Hb SS)
    • A relatively common*, inherited red blood cell disorder (autosomal recessive) marked by sickling of the cells and chronic hemolytic anemia. It is caused by a mutation of both copies of the gene controlling the structure of hemoglobin chains.
    • Symptoms include intermittent severe pain, infection, damage to organs, jaundice, stroke and early death.
    • Treated with prophylactic penicillin (to prevent bacterial infections), pain medications, timely vaccinations, education of parents to recognize when their child needs prompt medical care, blood transfusions and sometimes bone marrow transplants. Careful medical supervision can prevent or reduce the number of painful crises and subsequent organ damage.
    • Risk of this disorder is detected by a hemoglobin result of FS by isoelectric focusing and HPLC.
  • Sickle beta thalassemia (Hb S/Th)
    • Rare*, inherited red blood cell disorders in which sickle genes are inherited along with genes that impair the production of hemoglobin (thalassemia). In the most serious form, normal beta hemoglobin is completely absent. This is referred to as S/߰ thalassemia or S/߰ thal. When some normal chains are produced but in decreased amount it is called S/+ thalassemia (S/+ thal) which can cause milder symptoms, depending on the amount of normal hemoglobin produced.
    • Symptoms and treatment are similar to or can be milder than those of sickle cell anemia and include splenomegaly.
    • Risk of this disorder is detected by a hemoglobin result of FS or FSA by isoelectric focusing and HPLC.
  • Sickle C disease (Hb S/C)
    • A rare*, inherited red blood cell disorder (hemolytic anemia) with hemoglobins S and C present in the absence of Hb A.
    • Symptoms are variable and can be much milder than for sickle cell disease but some individuals with SC disease can have serious symptoms.
    • Treatment of symptoms is similar to treatment of the same symptoms of sickle cell disease.
    • Risk of this disorder is detected by a hemoglobin result of FSC by isoelectric focusing and HPLC.

Other Enzyme Deficiencies

  • Biotinidase deficiency (BIO)
    • A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, biotinidase, necessary to recycle the vitamin biotin is missing or not working properly. Free biotin is needed as a cofactor for carboxylase enzymes and if it cannot be freed from its bound form by biotinidase it is not available to be used as a cofactor.
    • Symptoms which usually appear in a few months of age include seizures, hypotonia, hair loss and skin rashes. Untreated, developmental delays, speech problems, hearing loss and ataxia develop.
    • Treatment is daily supplementation with biotin.
    • Risk of this disorder is detected by a colorimetric enzyme assay for biotinidase activity.
  • Galactosemia (GALT)
    • Also called galactosemia type 1 or classic galactosemia.
    • A rare*, inherited disorder (autosomal recessive) marked by the inability to metabolize galactose because of a deficiency of the enzyme, galactose-1-phosphate uridyl transferase (Gal-1-PUT), which is needed to convert galactose to glucose.
    • Symptoms which start in the first week of life include jaundice, vomiting and feeding problems leading to failure to thrive or even death. Even with treatment (a diet without any galactose), many affected children have some development delay or mental deficit, speech or language problems, cataracts or enlarged liver.
    • Risk of this disorder is detected by an enzyme assay for Gal-1-PUT activity.

Amino Acid Disorders

Amino acidopathies are disorders of amino acid metabolism that occur when enzymes needed to break down specific amino acids or eliminate nitrogen from the body are deficient or absent. Toxic levels of amino acids or ammonia accumulate and cause brain damage and even death.

  • Phenylketonuria (PKU)
    • A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme, phenylalanine hydroxylase, necessary to break down phenylalanine, is missing or not working properly.
    • Without early detection and treatment, permanent mental retardation, behavioral problems and eczema develop after a few months. Newborns with PKU seem healthy and symptoms do not appear until irreversible damage has been done.
    • Treatment is a low protein diet with most protein provided in a phenylalanine-restricted formula. If treatment is started early, babies develop normally and have normal IQ.
    • Risk of this disorder is detected with elevated phenylalanine by MS/MS.
  • Maple syrup urine disease (MSUD)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, branched chain ketoacid dehydrogenase, necessary to break down ketoacid derivatives of leucine, isoleucine and valine, is missing or not working properly.
    • Symptoms develop within the first week of life - feeding intolerance, vomiting, lethargy and progress to irreversible mental retardation, seizures, coma and death.
    • Treatment is a low protein diet with most protein provided in a formula restricted in branched-chain amino acids and dietary monitoring to prevent metabolic crises.
    • Risk of this disorder is detected with elevated leucine by MS/MS.
  • Homocystinuria (HCY)
    • Also called cystathionine-synthase deficiency or CBS deficiency.
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, cystathionine-synthase, necessary to break down methionine, is missing or not working properly.
    • Symptoms develop slowly and include developmental delay, mental retardation, skeletal abnormalities (marfanoid appearance), osteoporosis, blood clots and dislocated lens in the eye.
    • Treatment is a low protein diet with most protein provided in a methionine-restricted formula. Vitamin B6 may be given along with other vitamin supplements.
    • Risk of this disorder is detected with elevated methionine by MS/MS.
  • Citrullinemia (CIT 1)
    • A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme, argininosuccinic acid synthetase, necessary to excrete the nitrogen from amino acids as urea, is missing or not working properly.
    • Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss of appetite, lethargy, hypotonia and vomiting and progress to seizures and coma. Prolonged periods of hyperammonemia can cause brain damage (intellectual disability).
    • Treatment is a low protein diet and special formula, supplementary arginine and other medications along with avoiding going without eating for very long.
    • Risk of this disorder is detected with elevated citrulline by MS/MS.
  • Argininosuccinic acidemia (ASA)
    • Also called argininosuccinic aciduria or argininosuccinyl-CoA lyase deficiency.
    • A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme, argininosuccinyl-CoA lyase, necessary to excrete the nitrogen from amino acids as urea, is missing or not working properly.
    • Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss of appetite, lethargy, poorly controlled breathing rate or body temperature, hypotonia and vomiting and progress to seizures and coma. Prolonged periods of hyperammonemia can cause brain damage (intellectual disability) and developmental delay.
    • Treatment is a low protein diet and special formula, supplementary arginine and other medications along with avoiding going without eating for very long.
    • Risk of this disorder is detected with elevated citrulline by MS/MS.
  • Tyrosinemia Type 1 (TYR 1)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, fumarylacetoacetate hydrolase, necessary to break down tyrosine, is missing or not working properly.
    • Symptoms develop in the first months of life but are not present immediately after birth. Untreated, a baby with tyrosinemia will develop liver disease (enlarged liver, jaundice, cirrhosis) and kidney damage leading to death. Early symptoms include lethargy, vomiting, diarrhea, irritability and failure to thrive.
    • Treatment includes medication, a diet low in tyrosine and phenylalanine and possibly a liver transplant.
    • Risk of this disorder is detected with elevated tyrosine by MS/MS.

Fatty Acid Oxidation Disorders

Fatty acid oxidation disorders (FAODs or FODs) occur when fatty acids cannot be completely metabolized to produce energy because of defects in enzymes needed for this conversion. When the body's supply of glucose and glycogen are expended, fatty acids are broken down to supply energy during periods of fasting or increased energy demands (fever, stress). Different defects in the fatty acid oxidation pathway prevent the complete breakdown of fatty acids to produce energy and a sudden crisis occurs which can leave an affected infant or child dead or with brain damage. These conditions can yield false negative results if screening occurs after a baby is well fed.

  • Carnitine Uptake Defect (CUD)
    • Also known as primary carnitine deficiency or carnitine transporter deficiency.
    • A very rare*, inherited disorder (autosomal recessive) that is caused by a defect in the carnitine transporter that moves carnitine across the plasma membrane into cells and retains carnitine in cells. Carnitine is needed for acylcarnitine formation to transport fatty acids into mitochondria where they can be broken down.
    • Symptoms which begin in infancy or early childhood include cardiomyopathy, confusion, vomiting, muscle weakness and hypoketotic hypoglycemia in acute episodes. Untreated these can lead to heart failure, encephalopathy, liver problems, coma and sudden death.
    • Treatment with supplementary carnitine, a low-fat diet and avoiding fasting (frequent feedings) can prevent metabolic crises.
    • Risk of this disorder is detected with lowered C0 (free carnitine) by MS/MS.
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
    • A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme, medium chain acyl-CoA dehydrogenase, necessary to break down fatty acids of medium chain length (4 to 12 carbons long), is missing or not working properly.
    • Symptoms present acutely with fasting and include hypoketotic hypoglycemia, vomiting, lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly and death.
    • Avoiding fasting (frequent feedings) and a low-fat diet can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C8 by MS/MS.
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
    • A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, very long chain acyl-CoA dehydrogenase, necessary to break down long chain fatty acids (12 to 18 carbons long), is missing or not working properly.
    • Symptoms present acutely with fasting and include hypoketotic hypoglycemia, cardiomyopathy in many cases, vomiting, lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly and death.
    • Avoiding fasting (frequent feedings) and a low-fat diet (supplemented with MCT oil and cornstarch), can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C14:1 by MS/MS.
  • Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, long chain L-3-hydroxyacyl-CoA dehydrogenase, necessary to break down certain fatty acids (between 12 and 18 carbons long), is missing or not working properly.
    • Symptoms include hepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia.
    • Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and supplemented with MCT oil and cornstarch), can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C16OH by MS/MS.
  • Trifunctional protein deficiency (TFP)
    • Also called mitochondrial trifunctional protein deficiency.
    • A very rare*, inherited disorder (autosomal recessive) that occurs when a protein containing three enzymes (long chain 3-hydroxyacyl-CoA dehydrogenase, long chain enoyl-CoA hydratase and long chain thiolase) necessary to break down long-chain fatty acids is missing or not working properly.
    • Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and supplemented with MCT oil and cornstarch), can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C16OH by MS/MS.

Organic Acid Disorders

Organic acidemias (OAs) are a group of inherited metabolic disorders that occur when certain enzymes involved in the breakdown of amino acids and other substances are not functioning properly. Toxic acids build up in the blood and spill into the urine (metabolic acidemia). Without treatment and prevention of acute episodes, these disorders can lead to coma and death during the first days or weeks of life.

  • Isovaleric acidemia (IVA)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, isovaleryl-CoA dehydrogenase, necessary to break down leucine, is missing or not working properly.
    • Symptoms include metabolic ketoacidosis, poor feeding, vomiting, dehydration, lethargy, rapid shallow breathing, "sweaty feet" odor, hyperammonemia, coma and death.
    • Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C5 by MS/MS.
  • Glutaric acidemia type 1 (GA-1)
    • A relatively rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, glutaryl-CoA dehydrogenase, necessary to break down lysine, hydroxylysine and tryptophan, is missing or not working properly.
    • Affected infant is usually macrocephalic with later signs of metabolic ketoacidosis (during periods of fasting or illness, which can progress to coma and death), failure to thrive, irritability, hypotonia, poor balance and coordination and neurological problems.
    • Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
    • Risk of this disorder is detected with elevated C5DC by MS/MS.
  • 3-Hydroxy-3-methylglutaric aciduria (HMG)
    • Also known as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or HMG-CoA lyase deficiency.
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-hydroxy-3-methylglutaryl-CoA lyase, necessary to break down leucine, is missing or not working properly.
    • Symptoms usually appear during the first year of life and include vomiting, diarrhea, lethargy, hypotonia and metabolic acidosis (during a period of fasting or illness) which can lead to coma and death.
    • Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
    • Risk of this disorder is detected with elevated C5OH by MS/MS.
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
    • A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-methylcrotonyl-CoA carboxylase, necessary to break down leucine is missing or not working properly.
    • Symptoms usually appear during the first year of life and include lethargy, vomiting, hypotonia, seizures, developmental delay and metabolic acidosis (during a period of fasting or illness) which can lead to coma and death.
    • Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
    • Risk of this disorder is detected with elevated C5OH by MS/MS.
  • Multiple carboxylase deficiency (MCD)
    • Also known as holocarboxylase synthetase deficiency.
    • A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, holocarboxylase synthetase, necessary to attach biotin as a co-factor to certain carboxylase enzymes, is missing or not working properly.
    • Symptoms can appear during the first week of life and include poor feeding, lethargy, vomiting, hypotonia, skin rash and metabolic acidosis which can lead to coma and death.
    • Treatment consists of biotin supplementation.
    • Risk of this disorder is detected with elevated C3 by MS/MS.
  • Methylmalonic acidemia - mutase deficiency (MUT)
    • Also known as methylmalonic acidemia, Vitamin B12 unresponsive.
    • A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, methylmalonyl-CoA mutase, necessary to break down certain lipids, amino acids and cholesterol is missing or not working properly.
    • Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic ketoacidosis which can lead to coma and death.
    • Treatment includes avoiding fasting and a low protein diet to prevent metabolic crises.
    • Risk of this disorder is detected with elevated C3 by MS/MS.
  • Methylmalonic acidemia - cobalamin disorders (Cbl A,B)
    • Also known as methylmalonic acidemia, Vitamin B12 responsive.
    • Rare*, inherited disorders (autosomal recessive) that occur with a defect in the synthesis of adenosylcobalamin, one of the active forms of Vitamin B12 which is needed as a cofactor for methylmalonyl-CoA mutase, necessary to break down certain lipids, amino acids and cholesterol.
    • Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic ketoacidosis which can lead to coma and death.
    • Treatment includes Vitamin B12 injections and a low protein diet.
    • Risk of this disorder is detected with elevated C3 by MS/MS.
  • Propionic acidemia (PROP)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, propionyl-CoA carboxylase, necessary to break down a product of protein and fat metabolism is missing or not working properly.
    • Symptoms usually appear during the first week of life and include poor feeding, lethargy, vomiting, dehydration, hypotonia and metabolic ketoacidosis which can lead to coma and death.
    • Treatment includes avoidance of fasting and a protein-restricted diet to prevent metabolic crises.
    • Risk of this disorder is detected with elevated C3 by MS/MS.
  • Beta-ketothiolase deficiency (BKT)
    • A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, -ketothiolase, necessary to break down isoleucine, is missing or not working properly. This disorder also impairs the body's ability to process ketones, which are produced during the breakdown of fats.
    • Symptoms usually appear during the first year of life and include lethargy, vomiting, seizures, and metabolic acidosis (during a period of fasting or illness) which can lead to coma and death. Long term complications include developmental delay, cardiomyopathy and hypotonia.
    • Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
    • Risk of this disorder is detected with elevated C5:1 by MS/MS.

Pulmonary Disorders

  • Cystic fibrosis (CF)
    • A relatively common*, inherited disorder (autosomal recessive) where a protein, cystic fibrosis transmembrane regulator (CFTR), is absent or does not work properly in the regulation of the movement of chloride ions through cell membranes. This causes the production of thick, sticky mucus that clogs lungs, pancreatic ducts and other organs.
    • Symptoms include salty sweat, failure to thrive, lung and sinus infections, intestinal problems (diarrhea or constipation, pain, gas). Many babies with CF are born with meconium ileus.
    • Treatment includes a higher-calorie diet, extra fluids, pancreatic enzyme supplementation, airway clearance therapy and medications (bronchodilators, mucus thinners and antibiotics).
    • Risk of this disorder is detected by an immunoassay for elevated immunoreactive trypsinogen (IRT) followed by a DNA analysis of the highest 2.2% of the IRT samples for 46 mutations to the CFTR gene. The CFTR InPlex Expanded Panel kit from Hologic detects the 23 mutations recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists plus 23 additional mutations and polymorphisms for a total of 46 genetic markers
  • Effective October 1, 2012, Cystic Fibrosis results will be displayed an the laboratory report.
  • Meconium ileus is one of the cardinal signs for CF that occurs in about 20% of patients. Learn more about it in the Clinical and Laboratory Standards Institute Guideline.

Disorders Not Detected by Bloodspot Screening

  • Hearing loss (HEAR)
    • A common* disorder that is both inherited and due to environmental causes.
    • Defined as hearing loss that is permanent, bilateral or unilateral, sensorineural or conductive, and averaging loss of 30 decibels or more in the frequency range important for speech recognition.
    • Although not required by statute, hearing screening is done in all birthing hospitals in Arizona as a standard of care. Reporting of hearing screening results to the Office of Newborn Screening is required and follow-up is done for babies who do not pass a hearing screening and do not return to the hospital for further testing.
    • Hearing loss is not usually diagnosed until 2 or 3 years of age without early screening programs. By that time speech and language development is delayed or impaired. Early detection and intervention helps affected infants learn speech and language.
  • Hearing Loss Statistics
    • common: occurs in greater than 1 in 5,000 US births
    • relatively common: occurs in between 1 in 5,000 and 1 in 25,000 US births
    • relatively rare: occurs in between 1 in 25,000 and 1 in 50,000 US births
    • rare: occurs in between 1 in 50,000 and 1 in 100,000 US births
    • very rare: occurs in less than 1 in 100,000 US births

Download the Arizona Panel of Disorders chart to learn more about analyses and cutoffs.

Secondary Disorders and Other Findings

Screening tests for core disorders do not exclusively test for these disorders alone. Other disorders or even carrier states may cause abnormal results and these results would be reported and followed until a diagnosis is made and a core disorder ruled out. Secondary target disorders are defined as disorders that can be detected in the differential diagnosis of a core disorder.

  • Other Disorders and Incidental Findings
    Some of the secondary disorders that have been detected by the Office of Newborn Screening along with incidental findings (carrier states) include:
    • Non-classical CAH
    • Hyperphenylalaninemia
    • Hypermethioninemia
    • Partial biotinidase deficiency
    • Galactosemia carrier or Duarte variant galactosemia
    • Carnitine palmitoyl transferase deficiency type II (CPT-2)
    • Cystic Fibrosis carrier
    • Other disease carriers
    • Other hemoglobin diseases
    • Hemoglobin traits
  • Other Hemoglobin Diseases
    Other hemoglobin diseases and traits are detected because the hemoglobin screening is not specific to the three sickling disorders on the Arizona panel. These include:
    • Sickle/Hereditary Persistence of Fetal Hemoglobin (S-HPFH)
      • A much milder form of sickle cell disease with no Hb A produced but fetal hemoglobin amounts that do not decline with time.
      • Risk of this disorder is detected by a hemoglobin result of FS by isoelectric focusing and HPLC.
    • Hemoglobin C Disease
      • An inherited red blood cell disorder (autosomal recessive) marked by target cells and chronic hemolytic anemia. It is caused by a mutation of both copies of the gene controlling the structure of hemoglobin chains.
      • It occurs most often in individuals of African descent and is characterized especially by splenomegaly, arthralgias, abdominal pain and the presence of target cells and hemoglobin C in the blood.
      • Risk of this disorder is detected by a hemoglobin result of FC by isoelectric focusing and HPLC.
    • Alpha Thalassemia
      • A hereditary hemolytic anemia marked by a decreased rate of synthesis of the a globin chains of hemoglobin.
      • Four gene deletions produce alpha thalassemia major which is incompatible with life. Affected infants are stillborn or born with severe hydrops fetalis (abnormal accumulation of fluid in the entire body of the infant) and die quickly. If transfusions are given prenatally and continued throughout life, a baby can survive.
      • Three gene deletions produce Hemoglobin H disease, two produce alpha thalassemia trait, and one the "silent carrier."
    • Hemoglobin H Disease
      • An inherited red blood cell disorder (autosomal recessive) marked by chronic hemolytic anemia. It results from only one working copy of the gene controlling alpha globin synthesis (3 gene deletions or two gene deletion and one non-deletional mutation).
      • It is marked by hypochromic red blood cells with inclusions that cause them to resemble golf balls (Hemoglobin H is unstable and cannot be quantified by laboratory methods).
      • Risk of this disorder is detected by a hemoglobin result of FA plus Barts (in a concentration of at least 15% of total hemoglobin) by isoelectric focusing and HPLC.
    • Hemoglobin H - Constant Spring Disease
      • A chronic inherited hemolytic anemia resulting from only one working copy of the gene for alpha globin synthesis and a structural defect called Constant Spring in one of the non-working copies of the gene. It is a more severe form of Hemoglobin H disease with variable consequences up to transfusion dependency.
      • Risk of this disorder is detected by a hemoglobin result of FA + Barts (in a concentration of at least 15% of total hemoglobin) by isoelectric focusing and HPLC.
    • Beta Thalassemia (βthal)
      • A hereditary hemolytic anemia marked by a decreased rate of synthesis of the globin chains of hemoglobin.
      • The homozygous form (Cooley's, Mediterranean or erythroblastic anemia) in which globin is completely absent is also referred to as thalassemia or βthal). The NBS hemoglobin result would be F only.
      • When some beta chains are present but in decreased amount it is called Beta Thalassemia or βthal. The NBS hemoglobin result would be FA or possibly F only). In an older individual, there would be increased amounts of Hb A2.
  • Hemoglobin Traits
    For more information and "just in time" information related to sickle cell traits, complete the free Sickle Cell Trait Primary Care Module.
    • Sickle Cell Trait
      • A condition in which one sickle gene mutation is inherited along with a normal gene for globin chain structure.
      • This trait is usually a very mild condition and most people with sickle cell trait never even know that they have it. However, in rare cases a person with sickle cell trait can have problems at high altitude or when exercising hard in hot weather when not drinking enough water.
      • Risk of this trait is detected by a hemoglobin result of FAS by isoelectric focusing and HPLC.
      • For more information, see the, Advice at a Glance: For People Who Have Sickle Cell Trait fact sheet for parents.
    • Alpha Thalassemia Trait
      • A condition in which an individual inherits only two working genes for alpha globin chain synthesis. Individuals with this condition will have a mild microcytic, hypochromic anemia. This decrease in alpha globin chain production does not lead to health problems.
      • Asians with alpha thalassemia trait usually, but not always, have the two non-working genes on the same chromosome (cis-type) making it possible to have a child with hydrops fetalis. African Americans with alpha thalassemia trait usually, but not always, have the two non-working genes on different chromosomes (trans-type) and therefore can only transmit one non-working gene to their offspring.
      • Risk of this trait is detected by a hemoglobin result of FA plus Barts (in a concentration of at least 10% of total hemoglobin) by isoelectric focusing and HPLC.
      • For more information, see the Arizona Hemoglobin Barts Fact Sheet for Health Care Providers.
  • Other Traits
    • Other traits like Hemoglobin C Trait, Hemoglobin D or G trait, Hemoglobin E trait or Unidentified Traits can be identified. These do not usually have any health problems other than a mild anemia that is not responsive to iron therapy.

Additional Resources about the Arizona Panel of Disorders

Note: Files are PDF format unless otherwise stated.