Use of sickle cell prep, which detects the presence of hemoglobin s, cannot distinguish between sickle cell trait as, sickle cell anemia hbss, hgbsc disease, hbs. Sickle cell anemia sca is a disease that is caused by the formation of an abnormal hemoglobin type, which can bind with other abnormal hemoglobin molecules within the red blood cells rbcs to. Helenas hemoglobin electrophoresis procedure, using cellulose acetate in alkaline buffer, is. Which hemoglobin electrophoresis findings suggest sickle cell. Doctors may order the test to help diagnose conditions related to irregular hemoglobin production, such as sickle cell disease or thalassemia. Acog publishes guidelines on hemoglobinopathies in pregnancy. Interpretation of newborn hemoglobin screening results. Sickle cell trait is a benign carrier condition, usually with none of the symptoms of sickle cell anemia or other sickle cell diseases.
It results in an abnormality in the oxygencarrying protein haemoglobin found in red blood cells. The diagnosis of sickle cell disease usually involves a blood test that is analysed for defected genes or haemoglobin cells. Laboratory diagnosis of hemoglobinopathies and thalassemia. Which hemoglobin electrophoresis findings suggest sickle. Sickle cell disease american academy of pediatrics. This inheritance pattern is commonly referred to as sickle cell anemia and is. Newborn screening for sickle cell disease and other.
Difference between sickle cell anemia and thalassemia. Capable of higher resolution than other hemoglobin electrophoresis. Distinguished in film by crescentshaped sickle cells red blood cell. Sickle cell disease scd is a group of inherited disorders of the betahemoglobin chain. Clinical indications for hemoglobin electrophoresis screening. In the united states, sickle cell trait is carried by 7% to 8% of people of african ancestry, and the sickle hemoglobinopathies are estimated to affect 90,000 to 100,000 people. A sickle cell disease ss b hemoglobin sc disease sc c normal patient d sickle cell trait as. People with hemoglobin sc disease have red blood cells that are differently shaped and therefore do not carry oxygen.
Sickle cell anemia, sicklehemoglobin c disease, sickle betaplus. The aim of this study was to determine the haemoglobin patterns of patients with sickle cell haemoglobinopathies. There are also 2 examples of sickle cell trait on this. Changes in red cell membrane structure and function, disordered cell volume control and increased adherence to vascular endothelium also play an important role. Sickle cell trait hb as meaning of the screening result. Sickle cell disease scd is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. Sickle cell anaemia sca is one of the most prevalent monogenic disorders. Sickle cell anemia this is a homozygous state showing almost exclusively hbs. Hemoglobinopathy is a group of inherited disorders characterized by structural variations of the hemoglobin molecule. If one parent is a carrier of the hbb hb s pathogenic variant and the other is a carrier of any of the hbb pathogenic variants e. Sickle cell disease is inherited in an autosomal recessive manner. Nov 20, 2019 interpretation of hemoglobin electrophoresis results should be placed in the clinical context, including the family history and results of serum iron studies, red cell morphology, hemoglobin, hematocrit, and red cell indices eg, mean corpuscular volume.
Objective alkaline electrophoresis is capable of separating hemoglobin a hba, hbf, hbs and hbc but hbs, hbd, hbg, hb lepore are unresolved, as are hbc, hba. For example, when sickle trait and hb c trait are inherited together, the result is a milder form of sicklecell disease, hb sc disease, easily recognized by hemoglobin electrophoresis, which. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. Sickle cell anemia, or sickle cell disease scd, is a genetic disease of the red blood cells rbcs. The most common type is known as sickle cell anaemia sca. Oct 15, 2007 acog publishes guidelines on hemoglobinopathies in pregnancy. The history and findings are typical of hb h disease, usually due to the inheritance of a total of three deleted alpha chain genes. High performance liquid chromatography hplc in diagnosis of. Hemoglobin electrophoresis procedure helena laboratories. Without quantitation those newborns with a and s hemoglobins where the s hemoglobin is. May 01, 2000 sickle cell disease is caused by a variant of the. An overview of hemoglobinopathies and the interpretation of. Symptomatically, this disorder was known for quite some time in africa before it was recognized in the western hemisphere, with reports dating back to 1670 in ghana 1. Dec 21, 2014 sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.
Sickling test and solubility test positive in heterozygous sickle cell diseases and sickle cell anemia negative in hbc disease and hbc trait except charlem false negatives if hbs sickle cell disease. Hemoglobin fas pattern on newborn screen is highly suggestive of sickle trait. Recurring sickle cell crises and absence of splenomegaly are striking clinical findings. Approximately 8% of the africanamerican population carries the sickle cell trait. The structural mutant has an electrophoretic mobility similar to hb c under alkaline conditions but can be resolved by acid electrophoresis or isoelectric focusing. Acog recommends performing hb electrophoresis in addition to. A young athlete who demonstrates no symptoms is tested by means of hemoglobin electrophoresis at ph 8. Alkaline haemoglobin electrophoresis is a useful tool in diagnosing. This is the first case we have diagnosed in our laboratory using agarose gel electrophoresis. However, knowledge of sickle cell trait is important in many settings such as preconception counseling and evaluation of rare complications.
Women with sickle cell disease who are pregnant are at increased. However, ief the test used for screening does not quantitate results. Nov 11, 2016 hemoglobin sc disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Basic pathophysiology and new therapeutic options dimitris loukopoulos, md foundation for biomedical research of the academy of athens, greece. Sickle cell disease scd is a group of blood disorders typically inherited from a persons parents. H a f s a 2 sickle trait this is a heterozygous state showing hba and hbs and a normal amount of hba 2 on cellulose acetate. Haemoglobin electrophoresis in diagnosing a case of sickle.
Hemoglobin is a tetramer composed of 4 globin molecules. How should we prepare for a hemoglobin electrophoresis test. Hemoglobin sc disease genetic and rare diseases information. Aug 01, 2015 what is the prevalence for sickle cell anemia and s. Background about sickle cell disease and making the diagnosis sickle cell disease is the most common inherited hematologic disorder in the world, primarily affecting people of african, mediterranean, east indian or latin american descent. The formation of polymerized haemoglobin leading to erythrocyte rigidity and appearance of characteristic sickle shaped red blood cells rbcs resulting in vascular occlusion and haemolysis is central to the molecular pathogenesis of the disease. Newborn screening nbs for sickle cell disease scd as. It is most often found in people with african heritage, but it can also be found in people with ancestry from other parts of the world. Because of the differences in charges, hb s and other abnormal hemoglobins migrate differently from normal hb a. Sickle cell anemia medical diagnostic laboratories llc.
Pdf alkaline haemoglobin electrophoresis is a useful tool in diagnosing. High performance liquid chromatography hplc in diagnosis of sickle cell disorders i. Concept of electrophoresis in sickle cell disease youtube. The incidence of hyperhemolysis syndrome among patients with sickle cell disease is unknown but has now been well described. Hemoglobin electrophoresis an overview sciencedirect topics. A large band of hb a and a small band of hb h are seen. This statement provides pediatricians in primary care and subspecialty practice with an overview of the genetics, diagnosis, clinical manifestations, and treatment of scd. In children with normocytic hemolytic anemia, if results of electrophoresis show only hbs with an hbf concentration of less than 30%, the diagnosis is sickle cell anemia. In the case of sickle cell anemia hbss, mutations are homozygous with production of hbs. Hemoglobin s in sickle cell disease contains an abnormal. What is the most likely diagnosis for this patient. Inherited autosomal recessively, either two copies of hb s or one copy of hb s plus another. This is because the hplc pattern typical of sickle cell anemia fs is also found in. Sickle cell disease scd is an inherited group of disorders characterized by the presence of hemoglobin s hbs, either from homozygosity for the sickle mutation in the beta globin chain of hemoglobin hbss or from compound heterozygosity of a sickle beta globin mutation with another beta globin mutation eg, sickle beta thalassemia.
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. Thalassemia and sickle cell anemia are two serious hematological disorders mostly encountered in the pediatric practice. What is the recommended treatment and management of the disease of this patient. Normally, rbcs are shaped like discs, which gives them the flexibility to travel through even. Hyperhemolysis syndrome in sickle cell disease expert rev.
Sickle cells have short life span thus this patent will have anemia. Jun 27, 2017 summary sickle cell anemia vs thalassemia. Sickle cell disease diagnosis sickledex test screening test deoxygenated hb s is insoluble in a concentrated phosphate buffer solution and forms a turbid suspension normal hemoglobin a and other hemoglobins remain in solution it does not differentiate between sickle cell disease ss and sickle cell trait as. Normal hemoglobin has 3 different types of hemoglobin hemoglobin a, a2, and f. Sickle cell trait and sickle cell disease sickle cell disease is an inherited blood disorder. C sickle cell disease we can rule out answer choice b because the patients pattern is different from the pattern seen with hemoglobin sc disease, which is shown in the third lane. The low prevalence of scd approximately 100,000us has limited progress in.
Normally, your blood cells are flat, round, and slightly thinner at the center. Hereditary persistence of fetal hemoglobin, sickle cell anemia, betathalassemia, hbc disease, hbe disease. Electrophoretic separation of hemoglobins hb at alkaline ph. Therefore, it is important to clearly understand the difference between sickle cell anemia and thalassemia.
Hb ss people who have this form of sickle cell disease inherit two sickle cell genes hb s, one from each parent. Pdf haemoglobin electrophoresis in diagnosing a case of sickle. Sickle hemoglobin hb s allele and sickle cell disease. Results on citrate agar show hemoglobins in the hba and hbs migratory positions zones.
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