Alpha thalassemia chromosome

Background Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart’s, which leads to intrauterine death. The presence of one functional alpha gene is associated with haemoglobin H disease, characterised by non-transfusion-dependent thalassaemia phenotype, while silent and carrier traits are mostly asymptomatic. Main body Clinical manifestations of non-deletional in alpha thalassaemia are varied and have more severe phenotype compared to deletional forms of alpha thalassaemia. Literature for the molecular mechanisms of common non-deletional alpha thalassaemia including therapeutic measures that are necessarily needed for the understanding of these disorders is still in demand. This manuscript would contribute to the better knowledge of how defective production of the α-globin chains due to mutations on the alpha-globin genes and/or the regulatory elements leads to alpha thalassaemia syndrome. Conclusion Since many molecular markers are associated with the globin gene expression and switching over during the developmental stages, there is a need for increased awareness, new-born and prenatal screening program, especially for countries with high migration impact, and for improving the monitoring of patients with α-thalassaemia. Thalassaemia is one of the most common g...

Thalassemia is an inherited blood disorder that affects your body’s ability to produce hemoglobin and healthy red blood cells. Types include alpha and beta thalassemia. Thalassemia may cause you to experience anemia-like symptoms that range from mild to severe. Treatment can consist of blood transfusions and iron chelation therapy. Overview What is thalassemia? Thalassemia (thal-uh-SEE-me-uh) is an inherited If you have thalassemia, your body produces fewer healthy hemoglobin proteins, and your How does thalassemia affect my body? Thalassemia can cause mild or severe • • Trouble breathing. • Feeling cold. • • Pale skin. Who is at risk for thalassemia? The Symptoms and Causes What causes thalassemia? Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these • Alpha globin protein chains consist of four genes, two from each parent. • Beta globin protein chains consist of two genes, one from each parent. The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is. What are the types of thalassemia? Thalassemia is classified as trait, minor, intermedia and major to describe how severe the condition is. These labels represent a range where having a thalassemia trait means that you may experience mild anemia symptoms ...

There are at least 4 different and distinct alpha-thalassemias: silent carrier (1 affected alpha-globin gene), alpha-thalassemia trait (2 affected alpha-globin genes), Hb H disease (typically 3 affected alpha-globin genes), and Hb Bart hydrops fetalis syndrome (typically deletion of all 4 alpha-globin genes). • The vast majority of alpha-thalassemia patients are clinically well and most are asymptomatic. Many patients with Hb H are also clinically well, but are at risk for: acute hemolytic episodes; aplastic crises; iron overload, even in the absence of chronic transfusions; hypersplenism; and endocrine disease. • • 1st Tests to Order • hemoglobin (Hb) • mean corpuscular volume (MCV) • mean corpuscular hemoglobin (MCH) • RBC count • peripheral smear • reticulocyte percentage • serum iron • serum ferritin • Other Tests to consider • brilliant cresyl blue staining of red blood cells • hemoglobin electrophoresis • Hb fractionation by high-performance liquid chromatography (HPLC) • gap-PCR • multiplex ligation-dependent probe amplification (MLPA) • direct sequencing • MRI (hepatic or cardiac) • superconducting quantum interference devices (SQUID) • liver biopsy • Alpha-thalassemia is a group of disorders of hemoglobin synthesis, caused by mutations or deletions in at least 1 of the 4 alpha-globin genes, leading to variably impaired alpha-globin chain production, with accumulation of the now excess and unpaired beta-globin chains. These defects lead to the corresponding clinica...

The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular lifelong blood transfusions. Beta thalassemia intermedia is less severe than beta thalassemia major and may require episodic blood transfusions. Transfusion-dependent patients will develop iron overload and require chelation therapy to remove the excess iron. Bone marrow transplants can be curative for some children with beta thalassemia major. Persons with thalassemia should be referred for preconception genetic counseling, and persons with alpha thalassemia trait should consider chorionic villus sampling to diagnose infants with hemoglobin Bart's, which increases the risk of toxemia and postpartum bleeding. Persons with the thalassemia trait have a normal life expect...

What Is Alpha Thalassemia? Alpha thalassemia is an inherited Depending on the type of alpha thalassemia, anemia can be very mild or very severe. What Are the Different Types of Alpha Thalassemia? The four main types of alpha thalassemia are: • Alpha thalassemia carrier. A person who is a carrier has no signs or symptoms of anemia. They don’t need any special medical treatment. • Alpha thalassemia trait (also called alpha thalassemia minor). People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. • Hemoglobin H disease. People with hemoglobin H disease have moderate or severe anemia. Some people with hemoglobin H disease need frequent blood transfusions to help them grow and develop well. Others don’t but might need transfusions during certain times. Blood transfusions deliver healthy hemoglobin and RBCs to the body. Most kids with hemoglobin H do not have symptoms when they are born. • Alpha thalassemia major (also called hydrops fetalis). In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. What Are the Signs & Symptoms of Alpha Thalassemia Carrier or Trait? People who are alpha thalassemia carriers do not have any signs or symptoms. People with alpha thalassemia traithave a very mild anemia. What Are the Signs & Symptoms of Hemoglobin H Disease o...