• In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (medscape.com)
  • In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective, resulting in an approximately 50% decrease in the synthesis of the beta-globin protein. (medscape.com)
  • Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have borderline microcytic, hypochromic anemia and they are usually asymptomatic or have mild symptoms. (wikipedia.org)
  • The fixed-dose combination (FDC) tezacaftor/ivacaftor-FDC has received approval for patients with cystic fibrosis (CF) aged 12 years and older who are homozygous for the F508del mutation or who are heterozygous for the F508del mutation and one of a number of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (nihr.ac.uk)
  • On the other hand, beta-thalassemia minor accompanied by some heterozygous form of HFE polymorphism may also lead to the disease manifestation. (biochemia-medica.com)
  • Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation. (ox.ac.uk)
  • There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
  • In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
  • These mutations may be heterozygous or homozygous. (msdmanuals.com)
  • In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. (medlineplus.gov)
  • People with beta thalassemia are at an increased risk of developing abnormal blood clots. (medlineplus.gov)
  • and other associated health problems in people with beta thalassemia. (medlineplus.gov)
  • The FDA approval of Zynteglo offers people with beta-thalassemia the possibility of freedom from burdensome regular red blood cell transfusions and iron chelation, and unlocks new possibilities in their daily lives," said Andrew Obenshain, CEO of Bluebird Bio. (genengnews.com)
  • As the first ex vivo lentiviral vector gene therapy approved in the U.S. for the treatment of people with beta-thalassemia, we are ushering in a new era in which gene therapy has the potential to transform existing treatment paradigms for diseases that currently carry a lifelong burden of care. (genengnews.com)
  • Before Zynteglo's approval, stem cell transplants were the only potentially curative options for people with beta thalassemia, but many people with the condition are unable to find a genetically-matched donor. (bostonglobe.com)
  • Mutations in globin genes cause thalassemias . (medscape.com)
  • Beta thalassemia affects one or both of the beta-globin genes. (medscape.com)
  • In beta thalassemia major (ie, homozygous beta thalassemia), the production of the beta-globin chains is severely impaired because both beta-globin genes are mutated. (medscape.com)
  • Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characterized by severe early-onset iron overload, caused by mutations in hemojuvelin (HJV), hepcidin (HAMP), or a combination of genes regulating iron metabolism. (nih.gov)
  • Most often, mutations occur in the promoter regions preceding the beta-globin genes. (wikipedia.org)
  • The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. (medscape.com)
  • Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
  • It is caused by mutations in the genes that control the production of hemoglobin. (tutorialspoint.com)
  • 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)
  • 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)
  • 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)
  • Causes and Risk Factors − This is inherited and is due to some type of genetic change (mutation) that has occurred in the beta globin genes. (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)
  • when both genes are affected, the disease is called β-thalassemia major. (itmonline.org)
  • People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (childrensmn.org)
  • Mutation in these genes can also result in low levels of beta-globin this specific error this error in the human body is referred to one of the different forms of SCD called beta-thalassemia. (ukessays.com)
  • The four main types of sickle cell anemia are caused by different mutations in these genes. (healthline.com)
  • Many mutations in beta-thal genes will cause a decreased production, rather than an absence of production. (healthtap.com)
  • Inheritance of one f these genes will cause a thalassemia minor. (healthtap.com)
  • In alpha-thalassemia, the inheritance of two mutations (out of four genes) can provide mild or no symptoms that are typical of thalassemia minor. (healthtap.com)
  • If a woman takes a high risk medication during pregnancy, is it possible for the med to cause some type of mutation of genes resulting in birth defects? (healthtap.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)
  • Alpha-thalassemia results from decreased production of alpha-polypeptide chains due to a deletion of one or more alpha genes. (msdmanuals.com)
  • In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia . (medscape.com)
  • Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell transfusions as the standard course of treatment. (genengnews.com)
  • Bluebird estimates that there are as many as 1,500 people with transfusion-dependent beta thalassemia in the United States. (bostonglobe.com)
  • Other gene therapy candidates in the company's pipeline include treatments for metachromatic leukodystrophy (MLD), Wiskott-Aldrich syndrome (WAS), transfusion-dependent beta-thalassemia, and sickle cell disease. (ashkon.com)
  • Achievement of Pre- and Post-Transfusion Hemoglobin Levels in Adult Transfusion-Dependent Beta Thalassemia: Associated Factors and Relationship to Reduction of Spleen Enlargement. (cdc.gov)
  • Hemoglobin (Hb) E, a common Hb variant found in Southeast Asia, is associated with a beta thalassemia phenotype, and this variant is included in the beta thalassemia category of diseases. (medscape.com)
  • These results imply that the more severe phenotype may be due to a second defect, possibly unlinked to the beta-globin cluster, that acts at the translational or posttranslational level. (ox.ac.uk)
  • Individuals with beta thalassemia major (those who are homozygous for thalassemia mutations, or inheriting 2 mutations) usually present within the first two years of life with symptomatic severe anemia, poor growth, and skeletal abnormalities. (wikipedia.org)
  • Homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell-thalassemia disease (S-Thal disease) are common hemoglobinopathies that can present with mild-to-severe proliferative retinal findings. (medscape.com)
  • In this case of homozygous hereditary hemochromatosis and beta-thalassemia minor coinheritance, serum ferritin concentration, transferrin saturation, hemoglobin electrophoresis and HFE gene Cys282Tyr polymorphism analysis proved to be crucial for the relatively fast establishment of accurate diagnosis. (biochemia-medica.com)
  • Recognition of the homozygous form of hemochromatosis in association with beta-thalassemia minor explained the complexity and severity of the disease presentation. (biochemia-medica.com)
  • A homozygous form of Cys282Tyr mutation has been detected in approximately 83% of all HH cases with clinical manifestations (3). (biochemia-medica.com)
  • Beta-delta-thalassemia is a less common form of beta-thalassemia in which production of both the delta chain as well as the beta chain is impaired. (msdmanuals.com)
  • Today's approval is an important advance in the treatment of beta-thalassemia, particularly in individuals who require ongoing red blood cell transfusions," said Peter Marks, MD, PhD, director of the FDA's Center for Biologics Evaluation and Research. (genengnews.com)
  • We report the characterization of five novel delta-globin gene mutations detected during routine screening for thalassemia. (mcmaster.ca)
  • Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. (geneticsmr.com)
  • A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. (geneticsmr.com)
  • We tested whether CRISPR/Cas9 could be used in patient-specific iPSCs to precisely repair an RPGR point mutation that causes X-linked retinitis pigmentosa (XLRP). (nature.com)
  • point stop mutations), hemophilia ( A , B ), phenylketonuria -PKU (point mutation), Duchenne muscular dystrophy (DMD) , adenosine deaminase (ADA) deficiency causing severe combined immune deficiency (SCID), Tay-Sachs disease (hexosaminidase A deficiency). (dorak.info)
  • Accession H0031 Systematic name Allele 1: g.1863delG, c.91delG, r.91delg, p.Glu31fsX54 Systematic name Allele 2: g.3655C>T, c.568C>T, r.568c>u, p.Gln190X Description Allele 1: A frame shift deletion mutation in the exon 2 Description leading to a premature stop codon Description Allele 2: A point mutation in the exon 5 leading to a Description premature stop codon Date 22-Jul-2010 (Rel. (lu.se)
  • previously stated: beta thalassemia, and the other two embryos had a mutation that could eliminate red blood cells. (ostatic.com)
  • Several other groups in China (and perhaps elsewhere) are conducting similar research and rumor has it that at least one is using normal or near-normal human embryos that have only specific disease-associated mutations. (ipscell.com)
  • These embryos were made in the lab with sperm carrying a genetic mutation known to cause hypertrophic cardiomyopathy. (vox.com)
  • In a paper published in the prestigious journal Nature , a team led by Shoukhrat Mitalipov of Oregon Health and Science University described how it used CRISPR/Cas9 to correct a genetic mutation that's linked to a heart disorder called hypertrophic cardiomyopathy in human embryos. (vox.com)
  • It cut the mutant gene sequence, prompted the embryos to repair the DNA with healthy copies of the gene, and eliminated the disease-causing mutation altogether from many of the embryos. (vox.com)
  • Mitalipov and colleagues created embryos in the lab with sperm from a carrier of the disease-causing mutation in the MYBPC3 gene, and eggs from 12 healthy donors. (vox.com)
  • In all, 36 out of 54 embryos ended up with mutation-free copies of MYBPC3. (vox.com)
  • Another, slight different round of the experiment yielded 42 out of 58 embryos with mutation-free copies of the gene. (vox.com)
  • Currently, reproductive medicine doctors use something called preimplantation genetic diagnosis, or PGD, to identify embryos with harmful mutations. (vox.com)
  • And when they find embryos with mutations linked to disease, they often discard them, which can leave patients with few healthy embryos to try to transfer into the womb. (vox.com)
  • The researchers say that in the future, their technique could be used with PGD to help fix the mutations in embryos that otherwise would be discarded, giving women and couples more embryos to transfer and a better chance of getting pregnant. (vox.com)
  • In fact, much criticism was raised by a study in China in which researchers used CRISPR to delete a gene that is associated with beta-thalassemia, a blood disorder, in nonviable human embryos donated by a fertility clinic. (scienceblogs.com)
  • Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.The genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported. (medscape.com)
  • ABSTRACT Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. (who.int)
  • Individuals with few problems with beta globulin production are often silent carriers who show no symptoms. (tutorialspoint.com)
  • People who are alpha thalassemia carriers do not have any signs or symptoms. (childrensmn.org)
  • Borderline HbA levels: Dilemma in diagnosis of beta-thalassemia carriers. (cdc.gov)
  • 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)
  • In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia. (medlineplus.gov)
  • Four months after birth, the treated mice showed dramatic improvements in symptoms of beta thalassemia, enough so for them to be considered cured. (uconn.edu)
  • However, sometimes the symptoms of beta zero thalassemia are more severe. (healthline.com)
  • Beta thalassemias (β thalassemias) are a group of inherited blood disorders. (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)
  • Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. (wikipedia.org)
  • Thalassemia is a dreadful heritable hemolytic disease, characterized by a genetic mutation in the hemoglobin subunit beta (HBB) gene. (accscience.com)
  • Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. (bmj.com)
  • Some variants in the HBB gene prevent the production of any beta-globin. (medlineplus.gov)
  • Other HBB gene variants allow some beta-globin to be produced but in reduced amounts. (medlineplus.gov)
  • HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
  • Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
  • Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
  • In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
  • Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
  • 4-6 For example, several teams have used the CRISPR/Cas9 system to correct pathogenic variants underlying beta thalassemia, a hemoglobinopathy. (ama-assn.org)
  • 2003). Prenatal diagnosis in beta-thalassemia: An Indian experience. (accscience.com)
  • 2006). Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan. (accscience.com)
  • 2004). Profile of beta-thalassemia in eastern India and its prenatal diagnosis. (accscience.com)
  • Diagnosis − Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. (tutorialspoint.com)
  • Regional and ethnic distribution of Beta Thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. (pakmedinet.com)
  • Objective: To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening. (pakmedinet.com)
  • Lahore, from all over Pakistan for prenatal diagnosis of b-thalassemia. (pakmedinet.com)
  • History data and laboratory findings suggested the diagnosis of beta-thalassemia. (biochemia-medica.com)
  • Extended laboratory work-up pointed to the diagnosis of pigment cirrhosis-hemochromatosis, and verified the diagnosis of beta-thalassemia minor. (biochemia-medica.com)
  • We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their latest pregnancy. (geneticsmr.com)
  • Sickle cell-thalassemia disease is the third most common hemoglobinopathy. (medscape.com)
  • In the current study, the researchers injected the nanoparticle suspension into the amniotic fluid of pregnant mice whose fetuses carried a genetic mutation that causes beta thalassemia, a blood disorder that reduces the production of hemoglobin and causes a severe form of anemia. (uconn.edu)
  • Some people with thalassemia are susceptible to health complications that involve the spleen (hypersplenism) and gallstones (due to hyperbilirubinemia from peripheral hemolysis). (wikipedia.org)
  • In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (childrensmn.org)
  • Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. (medscape.com)
  • We're talking about eliminating mutations linked to diseases like breast and ovarian cancers or cystic fibrosis. (vox.com)
  • Patient-derived iPSCs, however, would still harbor disease-causing mutations. (nature.com)
  • In sickle cell anemia, the amino acid substitution valine for glutamate occurs on the beta chain at the sixth position. (medscape.com)
  • Beta-globin is a component (subunit) of hemoglobin . (medlineplus.gov)
  • Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
  • In these other types of sickle cell disease, just one beta-globin subunit is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C or hemoglobin E. (medlineplus.gov)
  • Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. (medlineplus.gov)
  • Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. (wikipedia.org)
  • The FDA has approved Bluebird Bio's Zynteglo as the first cell-based gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. (genengnews.com)
  • The safety and effectiveness of Zynteglo were established in two multicenter clinical studies that included adult and pediatric patients with beta-thalassemia requiring regular transfusions. (genengnews.com)
  • Zynteglo could change that by providing a healthy copy of the essential beta-globin gene to blood stem cells, allowing their bodies to make healthy blood cells and eliminate the need for regular transfusions. (bostonglobe.com)
  • Craig Butler, national executive director of the Cooley's Anemia Foundation - a nonprofit patient organization for thalassemia - is excited for people to have an alternative to time-consuming transfusions. (bostonglobe.com)
  • 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)
  • Treatment for my disease requires monthly blood transfusions," says Rob Mannino, who was motivated to conduct the research by his own experience living with beta-thalassemia, an inherited blood disorder caused by a mutation in the beta-globin gene. (futurity.org)
  • Such is the situation of Rob Mannino, a biomedical engineering graduate student at the Emory University School of Medicine, who requires monthly blood transfusions due to beta-thalassemia -- an inherited blood disorder caused by a mutation in the beta-globin gene. (zmescience.com)
  • Patients with thalassaemia need regular transfusions of red blood cells (once or twice monthly) in order to maintain a mean haemoglobin concentration of about 9.0-10.5 g/dl. (who.int)
  • These mutations, by causing impaired synthesis of the beta-globin protein component of Hb, result in anemia. (medscape.com)
  • beta) results in ineffective erythropoiesis and severe microcytic hypochromic anemia. (medscape.com)
  • They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. (wikipedia.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)
  • 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)
  • To generate healthy patient-derived cells, mutations might be repaired with new gene-editing technology based on the bacterial system of clustered regularly interspersed short palindromic repeats (CRISPR)/Cas9, thereby yielding grafts that require no patient immunosuppression. (nature.com)
  • This is the first report using CRISPR to correct a pathogenic mutation in iPSCs derived from a patient with photoreceptor degeneration. (nature.com)
  • Although the original disease-causing mutation would still be present in patient iPSCs, precise mutation correction is possible through gene editing techniques adapted from the bacterial clustered regularly interspersed short palindromic repeats (CRISPR)/Cas9 system 3 . (nature.com)
  • We tested whether CRISPR could precisely edit the pathogenic mutation and produce gene-corrected iPSCs for eventual use in autologous transplantation. (nature.com)
  • CRISPR gRNAs were selected to minimize the off-target profile and to maximize the degree of homology with a target sequence directly centered on the mutation site. (nature.com)
  • Together with CRISPR Therapeutics ( CRSP -3.42% ) , Vertex is developing a gene therapy known as CTX001 to treat hereditary blood disorders such as sickle cell disease (SCD) and beta-thalassemia. (fool.com)
  • CRISPR/Cas9 was used to correct the mutation. (vox.com)
  • Mutation in HBB gene completely halts the production of the beta-globin protein, which leads to the defective production of functional hemoglobin. (accscience.com)
  • In order to design a new PGT[M]Seq method, it is important that the defective gene causing the inherited disorder has been identified and the mutation in the gene has been characterized. (junogenetics.eu)
  • Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
  • The HBB gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
  • Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin. (medlineplus.gov)
  • In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
  • With the thalassemias, there's either no globin protein being made, and globin is the protein part of hemoglobin, or there's a decrease in the amount made. (contemporaryobgyn.net)
  • The size of the red blood cell is reduced because less beta protein is made. (healthline.com)
  • A hormone made by the body may be a potential therapeutic tool for the treatment of two anemic blood disorders -- beta-thalassemia and hemochromatosis. (medicaldaily.com)
  • The main cardiac abnormalities seen as a result of beta thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathy, arrhythmias, and pericarditis. (wikipedia.org)
  • Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
  • Treatment for patients with thalassemia major includes long-term transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic stem cell transplantation, gene therapy, and supportive measures. (medscape.com)
  • Of the two types, thalassemia major is more severe. (medlineplus.gov)
  • The signs and symptoms of thalassemia major appear within the first 2 years of life. (medlineplus.gov)
  • Puberty is delayed in some adolescents with thalassemia major. (medlineplus.gov)
  • Heart failure, growth impairment, diabetes and osteoporosis are life-threatening conditions which can be caused by beta thalassemia major. (wikipedia.org)
  • Two major groups of mutations can be distinguished: Nondeletion forms: These defects, in general, involve a single base substitution or small insertions near or upstream of the β globin gene. (wikipedia.org)
  • Thalassemia major is associated with a nonproliferative pigmentary retinopathy. (medscape.com)
  • Hb A, the major hemoglobin in adults, is composed of four polypeptide chains, two alpha chains, and two beta chains (alpha2 beta2) held by noncovalent bonds. (medscape.com)
  • The therapy was said to be effective for those with β-thalassemia minor, but not for those with β-thalassemia major. (itmonline.org)
  • Alpha thalassemia major (also called hydrops fetalis ). (childrensmn.org)
  • What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major? (childrensmn.org)
  • Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (childrensmn.org)
  • Thalassemia Major Patients from the Western Region of Uttar Pradesh, India. (cdc.gov)
  • Mutations are characterized as (βo) if they prevent any formation of β globin chains, mutations are characterized as (β+) if they allow some β globin chain formation to occur. (wikipedia.org)
  • Hence, the aim of this study was to screen the population of Garhwal for beta-thalassemia (β-thalassemia) and thus find out the prevalence in the inhabitants through molecular characterization. (accscience.com)
  • 2013). Molecular characterization of β-thalassemia in four communities in South Gujarat--codon 30 (G → A) a predominant mutation in the Kachhiya Patel community. (accscience.com)
  • Since 1980, researchers at the Guang'anmen Hospital of the China Academy of Traditional Chinese Medicine (Beijing) and at the Hematology Institute of the Chinese Academy of Medical Sciences have been investigating treatment of β-thalassemia. (itmonline.org)