Silent alpha thalassemia carrier

Alpha thalassemia trait a person with two working copies of the alpha globin gene has alpha thalassemia trait. A trait carrier of thalassemia will always be a trait carrier. This individual is often referred to as a silent carrier. Two types of alphathalassemia can cause health problems. You can find more detailed information about some of the other types of carrier in the following leaflets. Blood samples were incubated with lleucine14 c to determine the relative production of alpha and beta chains in reticulocytes. Alpha globin is made by four genes, two on each strand of chromosome 16. Being a silent carrier means you dont have signs of the disease, but you can pass the damaged gene on to your child. Normal hemoglobin consists of two alpha chains and two beta chains. Hemoglobin electrophoresis is typically normal in silent carriers or patients with alpha thalassemia trait 2. Blood tests are usually normal and the only way to confirm a silent carrier is by dna studies.

Alpha thalassemia occurs when one or more of the 4 alphaglobin genes that make up part of the hemoglobin molecule are missing or damaged. Being a carrier of the trait is sometimes known as having the thalassaemia trait or having thalassaemia minor. Silent alpha thalassemia carrier one alpha chain gene is deleted the other three are normal. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. At phenotypic level, the carrier states are divided into silent carrier and alphaalpha thalassemia trait. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. Alpha thalassemia genotype and associated phenotype 24.

Weve been checked for everything, and there is nothing wrong, according to the doctors. The frequency of carriers for alpha thal is about one in 30 in persons who are southeastern asian or chinese. People with hemoglobin h disease can have an enlarged spleen, low red blood cell. In the past two years, weve had seven miscarriages in the 1st and 2nd trimester. Types of alpha thalassemia symptoms 1 silent carrier no symptoms 2 alpha thalassemia trait minor anemia 3 hemoglobin h disease mild to moderate anemia may lead normal life 4 hydrops fetalis fetal death usually occurs at birth betathalassemia.

The severity of alpha thalassemia depends on the number of defective. Anemia, enlargement of the spleen and liver, mild jaundice, skeletal changes, particularly in the face, are general. Thalassemia is a medical condition in which the body makes less hemoglobin than usual. Silent alpha thalassemia carriers have no signs or symptoms of the disease, but are able to pass thalassemia on to their children. What if one parent has alpha thalassemia trait and the other parent is a silent carrier. Hemoglobin consists of two main protein chains called alpha and beta. Alphathalassemia is a blood disorder that reduces the bodys production of hemoglobin. This means it is passed down through the parents genes. This is caused when there a change in the genes that make a protein called beta globin. This means they can pass on the condition of having one 1 gene missing. Individuals with alpha thalassemia silent carrier and alpha thalassemia minor usually do not develop symptoms and do not require treatment. Alpha thalassemia an overview sciencedirect topics.

People who are carriers of thalassaemia are also at risk of having a child with a blood disorder if their partner is a carrier of a different type of blood disorder. This means your child has a one 1 or 2 alpha gene deletion and has alpha thalassemia trait or is a silent carrier. Alphathalassemias have also been classified based on the number of globin genes that are missing or abnormal. This means your child has a one or twoalpha gene deletion and has alpha thalassemia trait or is a silent carrier. There are at least 4 different and distinct alphathalassemias.

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. Problems with these genes can cause alpha thalassemia, but when only one of the four genes is affected the individual has no symptoms and is known as an alpha thalassemia silent carrier. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. This came as a bit of a surprise since her ethnic background is english and irish. Alpha thalassemia in children stanford childrens health. Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Alphathalassemia genetic and rare diseases information. In the most severe type, hb bart syndrome, pregnancies may result in stillbirth or early infant death. Alpha thalassemia silent carrier nicklaus childrens hospital. Over two million people in the united states carry the genetic trait for thalassemia. Alpha thalassemia affects the production of hemoglobin. Frequently, the diagnosis of alpha thalassemia trait in a parent is discovered after the birth of an affected child. Alpha thalassemia trait and beta thalassemia trait. This means he or she doesnt have symptoms, but can still pass the gene to their child.

The alpha thalassemias can be generally categorized as. Individuals with alpha thalassemia silent carrier do not develop symptoms, while individuals with alpha thalassemia minor do not develop any symptoms or are. Clinical presentations of alpha thalassemia a single deletion. Normally, a second newborn screening test will not detect this condition. Anemia is a low red blood cell or low hemoglobin level. There are four types of alpha thalassemiahb bart syndrome, hb h disease, alpha thalassemia trait, and silent carrier. A mutation in any one of the four alpha genes results in a condition that has no symptoms alpha thalassemia silent carrier, but individuals can pass the mutant. Alpha thalassemia or hemoglobin constant spring trait moderate barts alpha thalassemia trait produces a moderate level of barts and typically results from the dysfunction of two alpha genes either due to gene deletions or a specific change in the alpha gene that produces elongated alpha globin and. Alpha thalassemia is an inherited disease that affects the ability of red blood cells to provide the body with enough oxygen. The silent carrier state most frequently results from the presence of a single alpha. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Alpha thalassemia indications for ordering carrier screening o healthy individuals of african, mediterranean, middle eastern, and southeast asian descent o individuals with a family history of alpha. Like the silent carrier, alpha thalassemia trait is not a disease and does not affect your health. An individual with one abnormal alpha globin gene is said to be a silent carrier of alpha thalassemia.

Individuals who have one or two abnormal alpha globin genes have alpha thalassemia trait. People missing one 1 alpha globin gene aa a are called silent carriers of alpha thalassemia. Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body there are four types of alpha thalassemia, hemoglobin bart hydrops fetalis syndrome or hb bart syndrome the more severe form, hbh disease, silent carrier. Dna analysis for globin mutations is necessary for the evaluation of atrisk couples. Alpha thalassemia is an inherited condition and requires both parents to be carriers. It is important that individuals with alpha thalassemia minor be correctly diagnosed, however, in order to avoid unnecessary treatments for similarly appearing conditions such as iron deficiency anemia.

If youre a carrier of thalassaemia, it means you carry one of the faulty genes that cause thalassaemia, but you do not have thalassaemia yourself. The trans form of alpha thalassemia minor is more common in people of african descent. The risk of having a child with alpha thalassemia disease is dependent on the status of the parents. It is a genetic trait passed down from parents to children. The silent carrier status is characterized by three functional genes that code for the production of alpha globins. If one of the four copies of the alpha globin gene is not present in an individual they will not have any symptoms because they still make enough alpha globin. Hematologic features of alpha thalassemia carriers ncbi. If one parent has the cis form of alpha thalassemia trait, and the other parent is a silent carrier. Deletion or nonfunction of a single alpha globin gene is not accompanied by any clinical or hematologic abnormalities. Two missing or mutated genes is a condition called alpha thalassemia minor or having alpha thalassemia trait.

Outside the newborn period, it is not possible to make this diagnosis by conventional methods. Blood tests are usually normal, and the only way to confirm a silent carrier is by dna studies. If a large number of barts hemoglobin and hemoglobin h genes are present on the newborn screening test. Other names for this condition are alpha thalassemia minima, alpha thalassemia2 trait. An infant can inherit no, one, or two alphathalassemia genes from each parent, giving rise to the following four clinical syndromes. Alpha thalassemia trait causes the size of the red blood cells to be. This condition, in which one of the four alpha globin genes is missing or. The thalassemia carrier is also known as thalassemia trait or thalassemia minor that has no direct impact on the health. One missing or abnormal gene makes a child a silent alpha thalassemia carrier.

The table below categorizes the types of alpha thalassemia. Alpha thalassemia silent carrier involves defects in one of the four genes required to make each. There are four genes that contribute to the making of hemoglobin. Problems with these genes can cause alpha thalassemia, but when only one of the four. My wife is a silent carrier of alphathalassemia one gene deletion. Silent carrier, alpha thalassemia trait, hemoglobin h disease, hemoglobin hconstant spring, and alpha thalassemia major.

Both from the same chromosome, called a cis deletion. Alpha thalassemia is a genetic disease, and the abnormal genes are passed along from parents to their children. Silent carriers have just one of the four copies of the alpha globin gene nonfunctioning and, therefore have no evidence of disease and. Alpha thalassemia nord national organization for rare. This signs and symptoms information for alpha thalassemia silent carrier has been gathered from various sources, may not be fully accurate, and may not be the full list of alpha thalassemia silent carrier signs or alpha thalassemia silent carrier symptoms.

In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the bodys tissues. A person without alpha thalassemia should have four alpha globin genes. Alpha thalassemia silent carrier symptoms, diagnosis. Alpha thalassemia silent carrier nicklaus childrens. Hb h disease, silent carrier, alpha thal trait, hb constant spring, alpha thal major, hb barts % all newborn screening programs are detecting alpha thalassemia. One alpha chain gene is deleted the other three are normal. If one gene is missinga person is a silent carrier of alpha thalassemia and usually has no signs or symptoms. Problems with these genes can cause alpha thalassemia, but. Alpha thalassemia health encyclopedia university of. One gene is missing or damaged, and the other 3 are normal. Thalassemia knowledge for medical students and physicians. Detecting and reporting alpha thalassemia in newborns.