• Molecular analysis of DNA sequences (DNA analysis) can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia carriers (deletions or mutations in only one or two alpha-globin genes). (wikipedia.org)
  • Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
  • Mutations and gene deletions causing the various thalassemia genotypes have arisen independently in different populations but have subsequently propagated by means of natural selection. (medscape.com)
  • Someone who inherits two alpha thalassemia mutations has alpha thalassemia trait . (childrensmn.org)
  • Someone who inherits three alpha thalassemia mutations has hemoglobin H disease . (childrensmn.org)
  • Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (childrensmn.org)
  • Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome 11. (tutorialspoint.com)
  • Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the two types of protein chains that make up hemoglobin. (tutorialspoint.com)
  • The escalating prevalence of genetic disorders causing mutations in the HBA1 and HBA2 genes, which are crucial for the formation of alpha-globin chains, is primarily driving the alpha thalassemia market. (imarcgroup.com)
  • A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
  • 1. Alpha-thalassemia: Alpha-thalassemia is caused by mutations in the HBA1 and HBA2 genes, which are responsible for producing the alpha globin protein. (rarediseaseshealthcenter.com)
  • The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. (ox.ac.uk)
  • RESULTS Of the 12,030 participants, 931 were identified as having α-thalassemia, with --SEA, -α 3.7 , and -α 4.2 being the most common mutations. (ui.ac.id)
  • Α thalassemia major--new mutations, intrauterine management, and outcomes. (ui.ac.id)
  • In some south-east Asian countries up to 40% of the population may carry significant haemoglobin mutations, resulting in increased rates of infants born with thalassaemia. (who.int)
  • Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. (wikipedia.org)
  • citation needed] Deletion of four alpha globin genes was previously felt to be incompatible with life, but there are currently 69 patients who have survived past infancy. (wikipedia.org)
  • Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (medlineplus.gov)
  • Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. (medlineplus.gov)
  • Both the HBA1 and HBA2 genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . (medlineplus.gov)
  • People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (childrensmn.org)
  • Every child inherits four genes that make alpha globin: two from each parent. (childrensmn.org)
  • When these genes are altered (changed) or missing, thalassemia occurs. (stjude.org)
  • People who have moderate to severe forms of alpha thalassemia have inherited faulty hemoglobin genes from both parents. (stjude.org)
  • Alpha globin is made by four specific genes-two on each strand of chromosome 16. (stjude.org)
  • Each person needs these four genes (two from each parent) to make enough alpha globin for the body's hemoglobin to work normally. (stjude.org)
  • If two genes are missing-a person has alpha thalassemia trait (also called alpha thalassemia minor) and may have mild anemia. (stjude.org)
  • If all four genes are missing-a person has alpha thalassemia major (also called hemoglobin Bart's or hydrops fetalis). (stjude.org)
  • A parent with alpha globin-making genes that are altered or missing, may have a child with a form of alpha thalassemia. (stjude.org)
  • Alpha thalassemia is the condition where there is a reduced formation of alpha polypeptide chains because of an absence of alpha genes. (tutorialspoint.com)
  • There are two forms of alpha thalassemia depending on what genes are missing. (tutorialspoint.com)
  • Alpha + is when only one gene is missing from chromosome 16, while alpha 0 is when both genes are lacking from the same chromosome. (tutorialspoint.com)
  • Causes and Risk Factors − The condition is inherited and is due to a genetic mutation of the alpha genes that are responsible for making alpha polypeptide chains. (tutorialspoint.com)
  • There are four genes that control the production of alpha globin, and each person inherits two copies of these genes, one from each parent. (tutorialspoint.com)
  • The HBA1 and HBA2 genes make a protein called alpha-globin. (geneticsupport.org)
  • Most people have four copies of the genes that make the alpha-globin protein: two copies of the HBA1 gene (one from each parent), and two copies of the HBA2 gene (one from each parent). (geneticsupport.org)
  • Silent alpha thalassemia carriers do not usually have signs or symptoms of alpha thalassemia because their three working alpha-globin genes are enough to make up for the one that is missing. (geneticsupport.org)
  • Alpha thalassemia carrier, or alpha thalassemia trait (also referred to as -/αα or -α/-α): When there are two missing alpha-globin genes. (geneticsupport.org)
  • Alpha thalassemia, or hemoglobin H disease (also referred to as -/-α): When there are three missing alpha-globin genes. (geneticsupport.org)
  • Alpha thalassemia major, or hemoglobin Bart disease (also referred to as -/-): When all four alpha-globin genes are missing. (geneticsupport.org)
  • Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the HBA1 or HBA2 genes, which are responsible for producing the alpha globin protein. (rarediseaseshealthcenter.com)
  • 3. In this form of beta thalassemia, two defective genes are passed to the child and the child has no normal beta.chain gene. (athletesandinjuries.com)
  • Thalassemia is an inherited blood disorder that is passed down through the parent's genes. (athletesandinjuries.com)
  • Beta-Thalassemia minor often has a high number of Hgb A2 hemoglobin the person is lacking genes. (athletesandinjuries.com)
  • Terms alpha and beta thalassemia, beta thalassemia minor parent ' s genes a high number of Hgb A2 and. (athletesandinjuries.com)
  • Of anemia, especially microcytic anemia through the parent ' s genes are alpha thalassemia and beta minor. (athletesandinjuries.com)
  • Alpha thalassemia is caused by defects in the genes that control hemoglobin production. (lluch.org)
  • There are a total of 4 alpha genes on 2 chromosomes. (thalassemiapatientsandfriends.com)
  • Although several approaches failed to find a defect in the alpha-globin genes, 3 patients tested had markedly reduced total mRNA levels of both HBA1 and HBA2. (findzebra.com)
  • DNA from a Thai infant lacked the psi alpha 1 gene and both alpha genes, but the zeta genes were present. (ox.ac.uk)
  • The aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, Shafa hospital, affiliated to Ahvaz Jondidishapur University of Medical Sciences (AJUOMS), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (PND). (ijbc.ir)
  • In a four-year period (2000-2004), 93 voluntary couples from Khuzestan province (mostly Ahvaz area) who were proved to be carrier for alpha thalassemia, beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus sampling {CVS) plus direct or indirect DNA analysis at first trimester of pregnancy. (ijbc.ir)
  • The alpha part of the hemoglobin is made up of four genes-two from each parent. (epainassist.com)
  • Defect in these genes causes thalassemia and the symptoms vary accordingly. (epainassist.com)
  • Defect in any of the genes can cause thalassemia in mild or severe form. (epainassist.com)
  • Thalassemia intermedia, a milder form can also be seen as a result of 2 mutated genes. (epainassist.com)
  • Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. (hoacny.com)
  • Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
  • Treatment for alpha-thalassemia may include blood transfusions to maintain hemoglobin at a level that reduces symptoms of anemia. (wikipedia.org)
  • People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (medlineplus.gov)
  • Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
  • The decrease in alpha globin causes anemia (not enough RBCs in the body) and can lead to other medical problems. (childrensmn.org)
  • Depending on the type of alpha thalassemia, anemia can be very mild or very severe. (childrensmn.org)
  • People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. (childrensmn.org)
  • In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (childrensmn.org)
  • People with alpha thalassemia trait have a very mild anemia. (childrensmn.org)
  • The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (childrensmn.org)
  • This imbalance causes anemia and the other medical problems of alpha thalassemia. (childrensmn.org)
  • Major beta thalassemia (Cooley's anemia), occurs when there are severe symptoms such as problems with the bone marrow, and severe anemia. (tutorialspoint.com)
  • Diagnosis − Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. (tutorialspoint.com)
  • The thalassemia syndromes are a group of hereditary disorders in the synthesis of hemoglobin that result in varying degrees of anemia. (cdc.gov)
  • In alpha thalassemia major, a life-threatening anemia can develop in utero, necessitating the use of prenatal blood transfusions. (cdc.gov)
  • Alpha thalassemia is a genetic disorder called a hemoglobinopathy , or an inherited type of anemia. (geneticsupport.org)
  • People who have alpha thalassemia make red blood cells that are not able to carry oxygen as well throughout the body, which can lead to anemia. (geneticsupport.org)
  • Most people who are carriers for alpha thalassemia have no symptoms, but some may experience anemia. (geneticsupport.org)
  • This form of alpha thalassemia is extremely variable and can range from mild to moderate anemia. (geneticsupport.org)
  • Alpha thalassemia major can also include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), and defects of the heart, urinary system, and genitalia. (geneticsupport.org)
  • Thalassemia is a common cause of anemia, especially microcytic anemia. (athletesandinjuries.com)
  • Alpha thalassemia, which is characterized by genetic defects in the alpha-globin gene, is another known cause of mild microcytic anemia and has features similar to those of beta thalassemia. (athletesandinjuries.com)
  • greater than 13 indicates an iron deficiency or anemia of inflammation with alpha thalassemia trait. (athletesandinjuries.com)
  • Thalassemia Major or Cooley's Anemia. (athletesandinjuries.com)
  • Marion A. Koerper, MD UCSF School of Medicine San Francisco, CA. Thalassemia can cause mild or severe anemia. (athletesandinjuries.com)
  • Anemia, especially microcytic anemia thalassemia: alpha and beta thalassemia minor is a common condition is. (athletesandinjuries.com)
  • Symptoms of alpha thalassemia are from anemia. (lluch.org)
  • The primary purpose of this study is to compare the effect of mitapivat versus placebo on anemia in participants with alpha- or beta-non-transfusion dependent thalassemia (NTDT). (ucsd.edu)
  • People who have alpha or beta thalassemia trait can have mild anemia. (emirates247.com)
  • Those suffering from thalassemia may get anemia which can be mild or severe in nature. (epainassist.com)
  • Persons suffering from thalassemia get mild to severe anemia. (epainassist.com)
  • People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. (hoacny.com)
  • Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (hoacny.com)
  • Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. (hoacny.com)
  • The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. (hoacny.com)
  • B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic anemias (e.g., sickle cell disease, hemoglobin SC disease, hereditary spherocytosis, alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). (cdc.gov)
  • Two additional forms of alpha thalassemia are related to a reduced amount of alpha-globin. (medlineplus.gov)
  • If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). (wikipedia.org)
  • Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
  • Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (childrensmn.org)
  • In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (childrensmn.org)
  • Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (childrensmn.org)
  • If one gene is missing-a person is a "silent" carrier of alpha thalassemia and usually has no signs or symptoms. (stjude.org)
  • Develop lentiviral vectors carrying human alpha-globin gene for gene therapy of alpha thalassemia (AT) and perform initial tests in a cell line. (ca.gov)
  • Measuring hemoglobin levels in a couple may also help to show if they are carrying an alpha gene mutation. (tutorialspoint.com)
  • A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • Two of the alpha-globin proteins combine with two other proteins called beta-globins (which are made by the HBB gene) to make a normal red blood cell. (geneticsupport.org)
  • Silent alpha thalassemia carrier (also referred to as -α/αα): When there is one missing alpha-globin gene. (geneticsupport.org)
  • Alpha thalassemia is inherited in a complex autosomal recessive inheritance pattern, and potential outcomes depend on the parent's specific test results (how many copies of the alpha globin gene do the parents have on each of their chromosomes). (geneticsupport.org)
  • Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the alpha-globin gene. (rarediseaseshealthcenter.com)
  • The alpha globin one-gene deletion is consistent with alpha thalassemia silent carrier. (athletesandinjuries.com)
  • If both parents have the gene defect, each of their children has a risk of having alpha thalassemia major. (lluch.org)
  • It's not a big deal if the baby is a carrier, as long as there is no thalassemia gene from the father, also. (thalassemiapatientsandfriends.com)
  • A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
  • 1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
  • DNA analysis showed no deletions within the alpha-globin gene cluster. (findzebra.com)
  • We have now identified a human alpha 2-globin gene which contains a single point mutation in this hexanucleotide (AATAAA leads to AATAAG). (ox.ac.uk)
  • The paired alpha 1 gene on the same chromosome is completely inactivated by a frame-shift mutation. (ox.ac.uk)
  • This unique combination has enabled the expression of the mutant alpha 2 gene to be studied in vivo where it has been found that the accumulated level of alpha 2-specific mRNA in erythroid cells is reduced. (ox.ac.uk)
  • Furthermore, readthrough transcripts extending beyond the normal poly(A) addition site are detected in mRNA obtained from HeLa cells transfected with cloned DNA from the mutant alpha 2 gene, suggesting that the single nucleotide change in the AATAAA sequence is the cause of its abnormal expression. (ox.ac.uk)
  • The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been mapped by restriction endonuclease analysis using a zeta-specific probe. (ox.ac.uk)
  • Our data showed that the frequency of sickle cell mutational gene is second to β-thalassemia, α-thalassemia is the third one. (ijbc.ir)
  • Globally, the percentage of carriers of thalassaemia is greater than that of carriers of sickle-cell anaemia, but because of the higher frequency of the sickle-cell gene in certain regions, the number of affected births is higher than with thalassaemia. (who.int)
  • Deletions and nondeletion variants in one or more alleles reduce the amount of alpha-globin cells produce. (medlineplus.gov)
  • Nondeletion variants tend to reduce alpha-globin more than deletions. (medlineplus.gov)
  • Because nondeletion variants are usually more severe than deletions, nondeletion variants in two of the four alpha-globin alleles can result in HbH disease. (medlineplus.gov)
  • The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (medlineplus.gov)
  • What Are the Different Types of Alpha Thalassemia? (childrensmn.org)
  • However, NBS methodologies used to detect sickle cell disease, reported by all states, also detect alpha-thalassemia. (cdc.gov)
  • Severe alpha-thalassaemia is common in south-east Asia, and sickle-cell anaemia predominates in Africa. (who.int)
  • Geneva Univer- thies, including thalassemia and sickle-cell disease ( 4 ). (who.int)
  • with those computed via global burden of disease, or by · screening for carriers of common autosomal recessive dis- involving countries in the process of computation to assess orders in the Region, including beta thalassemia and sickle the accuracy of CGD estimates. (who.int)
  • Identify strategies the healthcare team can utilize to improve care coordination and outcomes for a clinically significant form of thalassemia. (cdc.gov)
  • The presentation of individuals with alpha-thalassemia consists of: Alpha-thalassemias are most commonly inherited in a Mendelian recessive manner. (wikipedia.org)
  • [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
  • The different alpha thalassemia genotypes in American and Jamaican black populations have been defined by hematologic and globin-chain synthesis studies, alpha/beta globin messenger RNA ratios and restriction endonuclease mapping of DNA. (ox.ac.uk)
  • This study aimed to assess α-thalassemia genotypes and evaluate the effectiveness of various thresholds for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in prenatal screening for α-thalassemia. (ui.ac.id)
  • These individuals typically have no thalassemia-related signs or symptoms. (medlineplus.gov)
  • People who are alpha thalassemia carriers do not have any signs or symptoms. (childrensmn.org)
  • Carriers of alpha thalassemia usually have no signs or symptoms. (stjude.org)
  • Signs and symptoms of alpha thalassemia are caused by a lack of oxygen being carried throughout the body. (stjude.org)
  • No symptoms -Silent carriers of alpha thalassemia generally have no signs or symptoms of the disorder. (stjude.org)
  • Exact numbers for how common alpha thalassemia is may not be completely accurate, as many people can have mild or no symptoms and may not even know that they have it. (geneticsupport.org)
  • Medical management for alpha thalassemia depends on the severity of symptoms that the person is experiencing. (geneticsupport.org)
  • What are the symptoms of alpha thalassemia in a child? (lluch.org)
  • Does alpha-thalassemia minor have any symptoms? (thalassemiapatientsandfriends.com)
  • The signs and symptoms of thalassemia vary according to the type of the disease. (epainassist.com)
  • Thalassemia is classified according to these symptoms as different types exhibit different symptoms. (epainassist.com)
  • The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. (medlineplus.gov)
  • Alpha thalassemia major (also called hydrops fetalis ). (childrensmn.org)
  • Newborns affected by alpha thalassemia major often exhibit hydrops fetalis, a life-threatening condition marked by severe edema and organ failure. (imarcgroup.com)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • This is the most severe form of alpha thalassemia, and is characterized by excess fluid build up in the body before birth (hydrops fetalis). (geneticsupport.org)
  • Genetic origin of α0-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndrome. (ui.ac.id)
  • A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (medlineplus.gov)
  • The degree of red blood cell hypochromia and Hb H levels, which varied from 0.7 to 6.7%, were milder than usually found in alpha-thalassemia. (findzebra.com)
  • this leads to the clinical disease known as alpha thalassemia. (medscape.com)
  • In these rounds, Elliott Vichinsky, MD, and Billie Lianoglou, MS, will discuss the genetics and the pathophysiology of complications in alpha thalassemia major. (cdc.gov)
  • The mechanism sees that α thalassemias results in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. (wikipedia.org)
  • Alpha thalassaemia-mental retardation, X linked. (ox.ac.uk)
  • X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. (ox.ac.uk)
  • see alpha-thalassemias, 141800) and mental retardation in 3 unrelated patients of northern European descent. (findzebra.com)
  • 1991) suggested that this condition be called 'X-linked alpha-thalassemia/mental retardation' (ATR-X) to distinguish it from the deletion form. (findzebra.com)
  • This mutation results in a decrease in the production of alpha globin, leading to an imbalance in the production of hemoglobin, the protein responsible for carrying oxygen in the blood. (rarediseaseshealthcenter.com)
  • Alpha-thalassaemia caused by a polyadenylation signal mutation. (ox.ac.uk)
  • Blood transfusions -are the main treatment for people with severe alpha thalassemia. (stjude.org)
  • Severe alpha thalassemia may lead to fetal demise or a life-long need for chronic transfusions with multiple medical complications, especially iron overload from transfusions. (ca.gov)
  • After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. (childrensmn.org)
  • People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. (childrensmn.org)
  • The severity of the α-thalassemias is correlated with the number of affected α-globin alleles: the greater, the more severe will be the manifestations of the disease. (wikipedia.org)
  • The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
  • Treatment is based on the type and severity of alpha thalassemia. (stjude.org)
  • One classification is based upon the part of the hemoglobin that is affected, while the other is based upon the severity of the thalassemia. (epainassist.com)
  • The frequency of thalassaemia and/or G6PD deficiency with SCD was high and this may have an effect on the severity of the clinical course of SCD in Taiz. (who.int)
  • Doctors diagnose thalassemias using blood tests. (medlineplus.gov)
  • Doctors diagnose thalassemias using blood tests , including a complete blood count (CBC) and special hemoglobin tests. (hoacny.com)
  • Yu J, Xie J, Luo L, Li Z. An Alu Element-Mediated 28.5?kb a-Thalassemia Deletion Found in a Chinese Family. (medscape.com)
  • A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. (medscape.com)
  • The results indicate that the common form of alpha thalassemia in these populations is the deletion type of alpha-thalassemia 2 (- alpha/alpha alpha). (ox.ac.uk)
  • in adult life it has the same phenotype as the heterozygous state for the deletion form of alpha-thalassemia 1 (--/alpha alpha). (ox.ac.uk)
  • Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. (wikipedia.org)
  • Hemoglobin analysis is important for the diagnosis of alpha-thalassemia as it determines the types and percentages of types of hemoglobin present. (wikipedia.org)
  • The diagnosis of this ailment involves a comprehensive evaluation of various methods, including blood tests to measure hemoglobin levels and determine the ratio of alpha to beta globin chains. (imarcgroup.com)
  • Additionally, the emerging popularity of hematopoietic stem cell transplantation procedures, since they boost the production of healthy red blood cells within the body to eliminate the need for lifelong transfusions and reduce complications related to iron overload, is expected to drive the alpha thalassemia market during the forecast period. (imarcgroup.com)
  • List complications associated with alpha thalassemia major. (cdc.gov)
  • What are possible complications of alpha thalassemia in a child? (lluch.org)
  • Possible complications also depend on the type of alpha thalassemia. (lluch.org)
  • Thalassemias Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
  • Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. (wikipedia.org)
  • Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen in the blood. (tutorialspoint.com)
  • A study by Kreger et al combining a retrospective review of three cases of alpha thalassemia major and a literature review of 17 cases found that in utero transfusion can lead to favorable outcomes. (wikipedia.org)
  • There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
  • The 7 major alpha thalassemia markets are expected to exhibit a CAGR of 8.4% during 2023-2033. (imarcgroup.com)
  • Management of alpha thalassemia major is complex and may present many challenges to overcome. (cdc.gov)
  • Describe features of the pathophysiology of alpha thalassemia major. (cdc.gov)
  • Describe an appropriate monitoring and treatment management plan for alpha thalassemia major. (cdc.gov)
  • Persons with beta thalassemia major are diagnosed during infancy. (athletesandinjuries.com)
  • People with beta-thalassemia major often have larger percentages of Hgb F. That is because beta-thalassemia affects the balance of alpha and beta hemoglobin chain formation greatly. (athletesandinjuries.com)
  • Affected people are at increased risk for having a child with alpha thalassemia major. (lluch.org)
  • Alpha thalassemia major. (lluch.org)
  • Most babies with alpha thalassemia major are stillborn or die soon after birth. (lluch.org)
  • The investigators aims to evaluate the safety of in utero hematopoietic stem cell transplantation in fetuses with alpha-thalassemia major performed at the time of in utero transfusion of red blood cells. (ucbraid.org)
  • The alpha thalassemia market has been comprehensively analyzed in IMARC's new report titled 'Alpha Thalassemia Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2023-2033' Alpha thalassemia refers to a hereditary blood disorder characterized by reduced or absent production of alpha globin chains, essential components of hemoglobin, the protein responsible for delivering oxygen in red blood cells. (imarcgroup.com)
  • Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (medscape.com)
  • Molecular and hematological studies in a large cohort of a 0 -thalassemia in northeast Thailand: Data from a single referral center. (medscape.com)
  • Molecular basis of α-thalassemia. (ui.ac.id)
  • In more severe cases, people with alpha thalassemia can also develop jaundice (yellowing of the eyes and skin), heart defects, and an enlarged liver and spleen (called hepatosplenomegaly). (geneticsupport.org)
  • Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia. (medlineplus.gov)
  • Beta thalassemia is more commonly found in people who are of Southeast Asian, African or Mediterranean descent. (tutorialspoint.com)
  • Beta- thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the Middle East and Asia. (who.int)
  • Alpha-thalassemia is particularly common among people with African, Mediterranean. (msdmanuals.com)
  • Thalassemia is an inherited or genetic disorder of blood. (epainassist.com)
  • When noting the genotype, an "α" indicates a functional alpha chain, and '-' a pathological one. (wikipedia.org)
  • HbH disease is usually caused by loss or alteration of three of the four alpha-globin alleles, which sharply reduces the amount of normal alpha-globin produced. (medlineplus.gov)
  • This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia. (ucbraid.org)
  • The UAE is joining the world tomorrow, Monday, in celebrating the World Thalassemia Day through various activities and events at schools, colleges and other institutions to promote awareness of the disease in cooperation with government and private organisations. (emirates247.com)
  • Thalassemia patients need more than medical treatment to be able to continue their fight against the disease, Deputy Chairman of the Board of the Emirates Thalassemia Society, Abdulbaset Merdas, said in statements to WAM. (emirates247.com)
  • BACKGROUND Αlpha (α)-thalassemia is a global health concern, and improving screening methods is crucial for disease prevention. (ui.ac.id)
  • CONCLUSIONS Optimizing the screening methods for α-thalassemia is important for preventing and managing the disease in the community. (ui.ac.id)
  • A 2016 survey of NBS programs found that although most programs report at least one form of suspected alpha-thalassemia, the methodologies, thresholds used, forms of disease reported, and processes for reporting vary widely. (cdc.gov)
  • In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. (medlineplus.gov)
  • Alpha thalassemia affects the amount of hemoglobin in the red blood cells. (athletesandinjuries.com)
  • This occurs because the body does not make enough healthy red blood cells and alpha globin. (stjude.org)