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Hemoglobin Electrophoresis: Purpose, Procedure, And Results - Healthline
What is a hemoglobin electrophoresis test?
A hemoglobin electrophoresis test is a blood test used to measure and identify the different types of hemoglobin in your bloodstream. Hemoglobin is the protein inside red blood cells responsible for transporting oxygen to your tissues and organs.
Genetic mutations can cause your body to produce hemoglobin that is formed incorrectly. This abnormal hemoglobin can cause too little oxygen to reach your tissues and organs.
There are hundreds of different types of hemoglobin. They include:
A hemoglobin electrophoresis test doesn't tell you about the amount of hemoglobin in your blood — that's done in a complete blood count. The levels that a hemoglobin electrophoresis test refer to are the percentages of the different types of hemoglobin that may be found in your blood. This is different in babies and adults:
In infants
Hemoglobin is mostly made up of hemoglobin F in fetuses. Hemoglobin F still makes up the majority of hemoglobin in newborns. It quickly declines by the time your baby is a year old:
You acquire different abnormal types of hemoglobin by inheriting gene mutations on the genes that are responsible for producing hemoglobin. Your doctor may recommend a hemoglobin electrophoresis test to determine if you have a disorder that causes the production of abnormal hemoglobin. Reasons your doctor may want you to do a hemoglobin electrophoresis test include:
1. As part of a routine checkup: Your doctor may have your hemoglobin tested to follow up on a complete blood test during a routine physical.
2. To diagnose blood disorders: Your doctor may have you do a hemoglobin electrophoresis test if you're showing symptoms of anemia. The test will help them find any abnormal types of hemoglobin in your blood. These could be a sign of disorders including:
3. To monitor treatment: If you're being treated for a condition that causes abnormal types of hemoglobin, your doctor will monitor your levels of the different types of hemoglobin with a hemoglobin electrophoresis.
4. To screen for genetic conditions: People who have a family history of inherited anemias such as thalassemia or sickle cell anemia may choose to screen for these genetic disorders before having children. A hemoglobin electrophoresis will indicate if there are any abnormal types of hemoglobin caused by genetic disorders. Newborns are also routinely screened for these genetic hemoglobin disorders. Your doctor may also want to test your child if you have a family history of abnormal hemoglobin or they have anemia that's not caused by an iron deficiency.
You don't need to do anything special to prepare for a hemoglobin electrophoresis.
You usually need to go to a lab to have your blood drawn. At the lab, the healthcare provider takes a sample of blood from your arm or hand: They first clean the site with a swab of rubbing alcohol. Then they insert a small needle with a tube attached to collect blood. When enough blood has been drawn, they remove the needle and cover the site with a gauze pad. They then send your blood sample to a laboratory for analysis.
In the laboratory, a process called electrophoresis passes an electrical current through the hemoglobin in your blood sample. This causes the different types of hemoglobin to separate into different bands. Your blood sample is then compared to a healthy sample to determine which types of hemoglobin are present.
As with any blood test, there are minimal risks. These include:
In rare cases, the vein may swell after blood is drawn. This condition, known as phlebitis, can be treated with a warm compress several times a day. Ongoing bleeding could be a problem if you have a bleeding disorder or are taking blood-thinning medication, such as warfarin (Coumadin) or aspirin (Bufferin).
The Newborn Screen—What Primary Care Clinicians Should Know
Newborn screening (NBS) programs are state mandated to ensure that all infants are screened for specific conditions at birth, providing the opportunity for early intervention and prevention of adverse outcomes such as neurologic dysfunction, developmental disability, and death.1 Screening for phenylketonuria (PKU) began in the 1960s.2 Since then, genomic medicine and technological advancements have expanded the capacity to screen for over 60 conditions.3
The Recommended Uniform Screening Panel (RUSP) forms a standardized list of disorders endorsed by the Advisory Committee on Heritable Disorders in Newborns and Children and recommended by the Secretary of the Department of Health and Human Services. While most states screen for the majority of disorders on the RUSP, states have the authority to determine which conditions are included in their state universal NBS program.1
Categories of Diseases Included in the NBSThe goal of newborn screening is to prevent morbidity and mortality through cost-effective early diagnosis of treatable disorders. Disorders listed on the RUSP are classified as either core conditions or secondary conditions. Treatment is available for all core conditions on the RUSP list. The NBS is specifically designed to detect core conditions and it is recommended that they be included in every state NBS program.4
Secondary conditions are considered clinically significant and may be detected while screening for core conditions or during confirmatory testing of an abnormal core condition result, but some secondary conditions may lack appropriate medical therapy to affect long-term outcomes.1, 5, 6 Core and secondary conditions are further broken down into the type of disorder: metabolic, endocrine, hemoglobin, and other.
As of July 2018, 35 core conditions and an additional 26 secondary conditions were on the recommended uniform screening panel.4 In-born errors of metabolism account for 20 of the core conditions on the current RUSP, the most of any category, and are categorized as either organic acid metabolism disorders (n=9), fatty acid metabolism disorders (n=5), or amino acid metabolism disorders (n=6). In addition, endocrine and hemoglobin disorders account for 2 and 3 RUSP core conditions, respectively. Ten other various core conditions round out the list.
Clinical findings may be helpful in the differential diagnosis of some disorders. For example, infant tone and activity such as urine odors, dysmorphic features, stooling patterns, quality of cry, laboratory findings, and feeding progress, may alert the practitioner of abnormalities before NBS results are known and may also serve as a reminder to check results of pending screens.7-11 Management of specific disorders depends on the underlying cause for the condition. Table 1 lists some of the more common conditions from the RSUP, their frequency, clinical features, and management strategies.
Table 1. Select Conditions From the Recommended Uniform Screening Panel Core Conditions4,7-11
Core Condition Type of Disorder Frequency Clinical Features Management Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Metabolic 1 in 17,000 Neonatal: usually asymptomaticLater: anorexia, vomiting lethargy, seizures, hyoketotic hypoglycemia Prevention of hypoglycemia; no fasting; heart healthy diet with ≤30% fat; carnitine supplementation Citrullinemia, type I Metabolic 1 in 57,000 Neonatal: Anorexia, vomiting, lethargy, seizures, coma, hyperammonemia Dietary protein restriction; essential amino acid supplementation Classic phenylketonuria Metabolic 1 in 10,000-15,000 Neonatal: vomiting, poor feeding, hyperactivity, irritabilityLater: seizures, musty urine odorUntreated: severe intellectual disability, developmental delays, seizures Dietary protein restriction; select amino acid restriction (special formula without phenylalanine) Holocarboxylase synthase deficiency Metabolic 1 in 87,000 Neonatal: lethargy, hypotonia, seizures, ketoacidosis, hyperammonemiaLater: rash, impaired T-cell immunity, developmental delay Biotin supplementation Primary congenital hypothyroidism Endocrine 1 in 2000-4000 Neonatal: lethargy, hypotonia, periorbital edema, large fontanelles, feeding difficulty, respiratory distress, pallor, prolonged jaundice, hoarse crying, constipation, hypothermia Thyroid hormone replacement Sickle cell disease Hemoglobin 1 in 500(Black infants)1 in 1000-1400 (Hispanic infants) Early childhood: anemia, repeat infections, episodic pain Treat pain; prevent complications; stem cell transplant Cystic fibrosis Other 1 in 2500-3000 (White infants)1 in 17,000(Black infants)1 in 31,000(Asian infants)1 in 9200(Hispanic infants) Neonatal: meconium ileus, intestinal atresia, prolonged jaundice, abdominal or scrotal calcificationsEarly childhood: digestive symptoms or failure to thrive, pulmonary infections High energy and fat diet; hydrolyzed protein formula with MCT; pancreatic enzyme, vitamin, mineral supplementation; breastfeeding encouraged Classic galactosemia Other 1 in 30,000-60,000 Neonatal: lethargy and poor feeding, jaundice with hepatic dysfunction, possible sepsisChronic: growth failure, cirrhosis, intellectual disabilities, cataracts Strict avoidance of dietary galactose MCT; medium-chain triglycerideBook ReviewModern Pathology - Nature
Cite this articleKonger, R. Book Review. Mod Pathol 17, 885 (2004). Https://doi.Org/10.1038/modpathol.3800097
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