What is hemoglobin Lepore syndrome?
Hb Lepore is one type of hemoglobin disorder in which there is structurally abnormal hemoglobin (Hb) that results from in-frame fusion between the 5 end of the δ-globin gene and the 3 end of the β-globin gene, due to misalignment of homologous chromosomes during meiosis..
What is the difference between a Hemoglobinopathy and an thalassemia?
Hemoglobinopathy and thalassemia are genetic disorders caused by aberrant hemoglobin; however, thalassemia is caused by reduced or absent synthesis of globin peptide chains1, while hemoglobinopathy is caused by alteration of the globin peptide chain conformation, which usually does not develop anemia33.
What happens beta thalassemia?
Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.
What is Delta Beta thalassemia?
Introduction. Delta beta (δβ) thalassemia is an infrequent cause of elevated fetal hemoglobin (HbF) beyond infancy. This disorder is characterized by reduction in production of both δ and β-globin chains, usually due to deletions of δ and β structural genes (1).
What is the most common hemoglobinopathy?
Sickle cell disease, the most common hemoglobinopathy, occurs when at least one HbS variant is present with a second pathogenic beta globin variant; the variants result in abnormal Hb. For more information on pathogenic Hb variants, see the Human Hemoglobin Variants and Thalassemias database.
What are the symptoms of Sideroblastic anemia?
The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of Sideroblastic anemia.
Can hemoglobinopathies be cured?
There is currently no cure for hemoglobinopathies. Children who receive treatment may still experience some of the signs mentioned in Early Signs. It is important to screen for and treat hemoglobinopathies because, if left untreated, babies with a severe form of the condition can die within their first year of life.
How is hemoglobinopathy treated?
Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation. Drugs to treat the symptoms of sickle-cell disease include analgesics, antibiotics, ACE inhibitors and hydroxyurea.
Is beta thalassemia curable?
Blood transfusions and chelation do not cure beta thalassemia. Some people with beta thalassemia intermedia and major can be cured with a stem cell transplant. A stem cell transplant is a serious procedure with many risks.
How long can a thalassemia patient live?
People with thalassemia trait have normal life expectancy. However, beta thalassemia major along with heart ailments can make the condition fatal before 30 years of age.
What is the life expectancy of someone with thalassemia?
Persons with thalassemia trait have a normal life expectancy. Persons with beta thalassemia major live an average of 17 years and usually die by 30 years of age. Most deaths are caused by the cardiac complications of iron overload.
How is Haemoglobinopathy diagnosed?
Definite identification of hemoglobinopathies can be achieved by a stepwise algorithmic approach, starting with a detailed clinical history, through hematologic evaluation [complete blood count (CBC)], reticulocyte count, red blood cell (RBC) morphology], protein based analytic methods [Hb electrophoresis or …
What are the treatment options for Hb Lepore syndrome?
Individuals heterozygous for the Hb Lepore require no particular treatment. There is no anemia or, if there is, it is very mild.
What is the clinical course of Hemoglobin Lepore syndrome?
Hemoglobin Lepore syndrome. Homozygous Hb Lepore is similar to beta-thalassemia major; however, the clinical course is variable. Patients with this condition typically present with severe anemia during the first two years of life. The heterozygote form is mildly anemic (Hb 11-13 g/dl) but presents with a significant hypochromia…
Can Lepore hemoglobins coelute with hemoglobin S?
Lepore hemoglobins coelute with hemoglobin S on alkaline electrophoresis and with A on acid electrophoresis, but the Sickling test is negative. Hemoglobins D and G also share this pattern. However, on HPLC, Lepore runs with A2, producing a characteristic lump on the downslope.
What follow-up tests are used in the workup of Hemoglobin Lepore disease?
Follow-up tests on patients with known hemoglobin Lepore may require only RBC indices.
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