The abnormal red cells break down, causing anemia, and obstruct blood vessels, leading to recurrent episodes of severe pain and multiorgan ischemic damage. Sicklehemoglobin e disease is a milder form of sickle cell anemia. Results are then confirmed by ief and citrate agar electrophoresis. Hemoglobin e disease 2 hemoglobin e beta thalassemia disease 2 sickle hemoglobin e disease 1 hemoglobin c disease 1 compound heterozygous hb kwoolwich and hb little rock 1 double heterozygous of hemoglobin westmead e trait 1 references 1. At birth, babies homozygous for the hemoglobin e allele do not present symptoms due to hbf fetal hemoglobin they still have. Because this mutation also adversely affects mrna processing, there is reduced. Hemoglobin c disease is a condition affecting a protein in the blood which transports oxygen throughout the body. Hemoglobin is a protein in the blood that carries oxygen from the lungs to all the tissues in the body. Other things that can affect the results of the hemoglobin a1c include supplements such as vitamins c and e and high cholesterol levels. Certain birth defects of the heart that are present at birth congenital heart disease failure of the right side of the heart cor pulmonale severe chronic obstructive pulmonary disease copd. Hemoglobin e is a structurally abnormal hemoglobin that results from an amino acid substitution lysine for glutamine at the number 26 amino acid of beta globin, counting from the n terminus. Sickle cell disease scd is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells. Those in which there is a quantitative defect in the production of one of the globin subunits, either total absence or marked reduction. Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.
A baby with a hemoglobin e gene from one parent and a beta thalassemia gene from the other parent will have hemoglobin e beta thalassemia. Hemoglobin hb e is the 3rd most prevalent hemoglobin worldwide after hb a and hb s. If you do develop signs and symptoms, you may have tiredness, weakness, or pale or. However, it is not well understood, if there has been natural selection for hemoglobin e hbe, which is a. The history and findings are typical of hb h disease, usually due to the inheritance of a total of three deleted alpha chain genes. Clinical and molecular analysis of haemoglobin h disease in sardinia. They may have small red blood cells seen on a blood test. Review how hemoglobin e trait, hemoglobin e beta thalassemia disease, and hemoglobin e disease are inherited if one parent has hemoglobin e trait and the other parent has normal hemoglobin, there is a 50 percent 1 in 2 chance with each pregnancy of having a child with hemoglobin e trait.
People with hemoglobin e disease normally do not have serious medical problems related to the disease. Laboratory diagnosis of hemoglobinopathies and thalassemia. Hemoglobin e disease msd manual professional edition. Hemoglobin c, sc, and e diseases blood disorders msd. Beta thalassemia trait and beta thalassemia disease other forms of hemoglobin disease most of the time beta thalassemia disease happens when both parents have beta thalassemia trait.
Another type of hemoglobin e disease is called hemoglobin e beta thalassemia. Kidney disease and liver disease may also affect the test. Hemoglobinopathy evaluation in routine carrier testing. Hemoglobin hb e is one of the worlds most common and important mutations. When both parents have e trait, each baby they have together has a 1 in 4 chance of inheriting hemoglobin e disease. There is a 75% or 3 in 4 chance that the baby will not have this disease. It results in a heterogeneous group of disorders whose phenotype range from asymptomatic to severe. People with hemoglobin e trait or homozygous hemoglobin e can pass the gene to their children.
Health care provider hemoglobinopathy fact sheet hemoglobin e is an inherited variant of normal adult hemoglobin hemoglobin a. The spleen can also become enlarged as a result of this disease. When one parent has hemoglobin ee and the other parent has beta thalassemia trait, there is a 50% 1 in 2 chance for hemoglobin ebeta thalassemia disease. Hemoglobin e hbe disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin e.
Symptoms of this condition can include fatigue, weakness, and anemia. High hemoglobin level is most often caused by low oxygen levels in the blood hypoxia, present over a long period of time. Hemoglobinopathies clinical manifestations, diagnosis, and treatment. Hemoglobin barts for physicians as part of routine newborn screening all babies are tested for sickle cell disease and other hemoglobinopathies. It is known that there has been positive natural selection for hemoglobin s and c in humans despite negative health effects, due to its role in malaria resistance. Your childs red blood cells contain two different hemoglobins, called hemoglobin s and hemoglobin e.
Genetic and clinical features of hemoglobin h disease in chinese patients. Because hemoglobin e disease does not cause any health problems, a parent may have hemoglobin e trait or. Clinical manifestation of thalassemiahemoglobin e disease. In contrast to the mild hematologic and clinical changes observed in the patients described by the author previously, the clinical and hematologic manifestations in the new patient were moderate in degree. Hemoglobin e hbe is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many asian countries. In the first months of life, fetal hemoglobin disappears and the amount of hemoglobin e increases, so the subjects start to have a mild.
People with hemoglobin e disease may have low blood counts. A person who carries one gene for hemoglobin e has hemoglobin e trait. The most common normal form is called hemoglobin a. A large band of hb a and a small band of hb h are seen. Hemoglobin e disease is inherited when both parents pass on a gene for hemoglobin e to their child. Screening of all specimens is done by isoelectric focusing ief. Most hemoglobin is made up of 2 parts, alpha globin and beta globin. Hydroxyurea hu is one of several agents that have been shown to enhance hemoglobin hb f levels in patients with sickle cell disease and may be useful as a therapy for betaglobinopathies. Hemoglobin electrophoresis on cellulose acetate at ph 8. It occurs primarily in southeast asian 15% incidence of homozygous disease populations, although rarely in people of chinese descent.
People with hemoglobin e disease may have mild anemia. Anemia healthy changes national heart, lung, and blood. Individuals with hemoglobin e disease do not produce hemoglobin a. People with this disorder have atypical hemoglobin molecules called hemoglobin s, which can distort red blood cells into a sickle, or crescent, shape. But sometimes one parent carries a different blood trait, such as hemoglobin e or hemoglobin s sickle cell. Hemoglobin c, sc, and e diseases are inherited conditions characterized by gene mutations that affect the hemoglobin the protein that carries oxygen in red blood cells, causing the cells to shape themselves abnormally and clump together. Hydroxyurea increases hemoglobin f levels and improves the. Matthews, bertil glader, in averys diseases of the newborn ninth edition, 2012. The trait for hemoglobin e occurs in up to 30% of people from certain areas of southeast asia. Clinical symptoms hemoglobin e is considered to be benign. Hemoglobin is the part of the red blood cells that carries oxygen through the body. Hemoglobin disorders hemoglobinopathies information for. Because this mutation also adversely affects mrna processing, there is reduced output of beta globin mrna.
It is inherited in an autosomal recessive manner and is caused by a mutation in the hbb gene. It affects more than a million people in the world. Hemoglobin e disease results when the offspring inherits the gene for hbe from both parents. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling. If both parents have hemoglobin e trait there is a 25 percent 1 in 4 chance with each pregnancy of having a child with hemoglobin e disease. When one parent has hemoglobin ee and the other parent has beta thalassemia trait, there is a 50% 1 in 2 chance for hemoglobin ebeta thalassemia disease in each pregnancy. Hemoglobin e disease information for physicians and other health care professionals definition hemoglobin e is an inherited variant of hemoglobin a. However, limited information exists on the effects of hu in patients with thalassemia.
Since 2006, all states have routinely screened newborns for hemoglobin s, which causes sickle cell disease. Hb h is an unstable hemoglobin which causes a hemolytic anemia. This means both parents carry at least one gene for hemoglobin e. Your red blood cells contain hemoglobin, which carries oxygen from the lungs to all parts of your body. Hbe is an inherited single base mutation at codon 26 of the betaglobin gene, leading to substitution of lysine for glutamic acid 1. It results from a substitution of lysine for glutamic acid in the 26th position of the beta.
Parent information sheet for positive newborn screening. Your child does not have hemoglobin e beta thalassemia, but future children and other family members may be. Hemoglobin disorders hemoglobinopathies information for parents overview. Hemoglobin e disease merck manuals professional edition. A clinical and hematologic description is presented of a patient with sicklecell hemoglobin e disease in a new family. Beta thalassemia trait and beta thalassemia disease. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. If you were born before 2006, you may not know if you have one of these hemoglobin variants. Act sheet for positive newborn screening result fae. Translations of brochures about thalassemia, thalassemia trait, and hemoglobin h disease are available here in pdf format for the following languages. Disease name hemoglobin e included diseases hemoglobin e trait, hemoglobin e disease, hemoglobin e. However, ief the test used for screening does not quantitate results. Rbc morphology and hemoglobin concentrations are usually normal two gene deletion. Hemoglobin fae pattern on newborn screen is highly suggestive of hemoglobin e trait.
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