Bart'sSickle-cell aFetal hemoglobinGeneticGenotypesSevereSyndromesHarteveld CLRBCsMutationsPrenatalAbnormalAnemiaGeneSymptomsGlobinIndividualsClinicalTraitHemeEffectivenessMajorSynthesisChainsPreventionMolecularResultsEvaluationBetaProductionBoundGenesProteinBloodPatientsNormalFormsOverviewDiseaseMinorIronLife
Bart's2
- The resulting disorder is referred to as hydrops fetalis, alpha thalassemia major, or hemoglobin Bart's. (medscape.com)
- 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)
Sickle-cell a5
- Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
- Sickle cell anemia is usually inherited from parents who are carriers, who have the sickle cell trait-a milder form of sickle cell anemia, or one abnormal hemoglobin . (yourdictionary.com)
- Sickle cell anemia is caused by an error in the gene that signals the body how to make hemoglobin . (yourdictionary.com)
- For children who are not tested, an electrophoresis test of the blood can detect the abnormal hemoglobin of sickle cell anemia. (yourdictionary.com)
- Sickle cell trait-Condition that occurs in people who have one of two possible genes responsible for the abnormal hemoglobin of sickle cell anemia. (yourdictionary.com)
Fetal hemoglobin8
- alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. (wikipedia.org)
- Deletion of all 4 alleles is lethal because it renders the body unable to make fetal hemoglobin (HbF), adult hemoglobin (HbA) or adult variant hemoglobin (HbA2), and results in hydrops fetalis. (wikipedia.org)
- In all three types of thalassemia, total or partial deficiency of beta polypeptide chain production impairs hemoglobin synthesis and results in continual production of fetal hemoglobin, even after the neonatal period has passed. (doctor-clinic.org)
- Drug research is focused on identifying drugs, such as hydroxyurea, that can increase the level of fetal hemoglobin in the blood. (yourdictionary.com)
- Fetal hemoglobin is a form of hemoglobin that all humans produce before birth, but most stop producing it after birth. (yourdictionary.com)
- Fetal hemoglobin seems to prevent "sickling" of red cells, and cells containing fetal hemoglobin tend to survive longer in the bloodstream. (yourdictionary.com)
- Butyrate, a substance widely used as a food additive, was also being investigated as of 2004 as an agent that may increase fetal hemoglobin production. (yourdictionary.com)
- H. "Therapies to increase fetal hemoglobin in sickle cell disease. (yourdictionary.com)
Genetic6
- Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
- More than 20 different genetic mutations resulting in the functional deletion of both pairs of alpha-globin genes (--/--) have been identified. (medscape.com)
- There are more than 15 different genetic mutations that result in decreased production of alpha globin, usually through functional deletion of 1 or more of the 4 alpha-globin genes. (medscape.com)
- Thalassemias are genetic disorders inherited from a person's parents. (drpareshmajumder.com)
- [2] Diagnosis is typically by blood tests including a complete blood count , special hemoglobin tests, and genetic tests. (drpareshmajumder.com)
- The error in the hemoglobin gene is due to a genetic mutation that occurred many thousands of years ago in people living in Africa, the Mediterranean basin, the Middle East, and India. (yourdictionary.com)
Genotypes2
- 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)
- 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)
Severe3
- Individuals with hydrops fetalis (--/--) have severe anemia. (medscape.com)
- [1] Often there is mild to severe anemia (low red blood cells or hemoglobin). (drpareshmajumder.com)
- In the most severe form of alpha-thalassemia-hydrops fetalis - severe anemia and heart failure render the fetus hydropic. (doctor-clinic.org)
Syndromes3
- The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
- [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
- Alpha thalassemia syndromes are caused by deficient expression of 1 or more of the 4 alpha-globin genes on chromosome 16 and are characterized by absent or reduced synthesis of alpha-globin chains. (medscape.com)
Harteveld CL1
- Harteveld CL, Higgs DR. Α--thalassaemia. (ui.ac.id)
RBCs2
- The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
- Transfusions of packed RBCs raise hemoglobin levels but must be used judiciously to minimize iron overload. (doctor-clinic.org)
Mutations3
- Alpha-thalassemias most commonly result from deletions of any of the four alpha alleles, although some alpha thalassemias have been reported that are due to mutations other than deletion. (wikipedia.org)
- 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)
Prenatal1
- METHODS This cross-sectional study included pregnant women and their husbands who underwent prenatal screening for thalassemia at the National Hospital of Obstetrics and Gynecology, Vietnam from January 2012 to August 2021. (ui.ac.id)
Abnormal4
- Abnormal production of alpha-globin chains results in a relative excess of gamma-globin chains in fetuses and newborns and of beta-globin chains in children and adults. (medscape.com)
- The abnormal form of hemoglobin causes the red cells to become sickle-shaped. (yourdictionary.com)
- The defective gene tells the body to make the abnormal hemoglobin HbS instead of the normal HbA, and this results in deformed red blood cells. (yourdictionary.com)
- This test measures the speed at which a molecule moves in a gel and can detect abnormal hemoglobin HbS. (yourdictionary.com)
Anemia2
- Splenectomy can result in an increase and hemolytic anemia can result in a decrease in glycated hemoglobin . (yourdictionary.com)
- Anemia in newborn infants is noted when hemoglobin levels are lower than expected for the birth weight and postnatal age. (yourdictionary.com)
Gene4
- Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. (wikipedia.org)
- Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
- Thalassemia major and thalassemia intermedia result from homozygous inheritance of the partially dominant autosomal gene responsible for this trait. (doctor-clinic.org)
- Thalassemia minor is caused by heterozygous inheritance of the same gene. (doctor-clinic.org)
Symptoms1
- Adverse symptoms occur when over 30 percent of the hemoglobin has been converted to methemoglobin. (yourdictionary.com)
Globin8
- They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
- A very tightly controlled globin chain production process keeps the ratio of alpha chains to non-alpha chains at 1.00 (± 0.05). (medscape.com)
- The alpha-globin genes are encoded on chromosome 16, and the gamma-, delta-, and beta-globin genes are encoded on chromosome 11. (medscape.com)
- however, their phenotypic expression may be described in simplified clinical terms related to the number of inherited alpha-globin genes. (medscape.com)
- Alpha thalassemias may be broadly classified according to whether the loss of alpha-globin genes is complete or partial-that is, alpha(0) thalassemia or alpha(+) thalassemia. (medscape.com)
- Individuals with this disorder cannot produce any functional alpha globin and thus are unable to make any functional hemoglobin A, F, or A2. (medscape.com)
- Persons who inherit 3 normal alpha-globin genes (-α/αα) are referred to clinically as silent carriers. (medscape.com)
- [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (drpareshmajumder.com)
Individuals1
- Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
Clinical2
- this leads to the clinical disease known as alpha thalassemia. (medscape.com)
- Beta-thalassemia (the most common form of this disorder) occurs in three clinical forms: thalassemia major, intermedia, and minor. (doctor-clinic.org)
Trait2
- The diagnosis of thalassemia trait and thalassemia major is made from microscopic examination of the blood, which shows many small, pale red blood cells, and from other blood tests that show reduced levels of adult hemoglobin in the blood. (doctor-clinic.org)
- If one partner has sickle cell trait and the other does not, their children each have a 50 percent chance of having the sickle cell trait, and a 50 percent chance of having normal hemoglobin . (yourdictionary.com)
Heme4
- The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an iron-containing nonprotein portion of the hemoglobin molecule). (yourdictionary.com)
- In immature red blood cells, heme is the featured component of hemoglobin . (yourdictionary.com)
- Heme-The iron-containing molecule in hemoglobin that serves as the site for oxygen binding. (yourdictionary.com)
- Protoporphyrin-A kind of porphyrin that links with iron to form the heme of hemoglobin . (yourdictionary.com)
Effectiveness1
- The glycated (glycosylated) hemoglobin test is used to monitor the effectiveness of diabetes treatment. (yourdictionary.com)
Major2
- There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
- Treatment of thalassemia major is essentially supportive. (doctor-clinic.org)
Synthesis2
- In thalassemia, diminished synthesis can affect either pair. (doctor-clinic.org)
- in beta-thalassemia, beta chain synthesis slows. (doctor-clinic.org)
Chains4
- The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
- Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
- Alpha-chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins. (medscape.com)
- Two pairs of polypeptide chains - alpha and beta chains - make up hemoglobin. (doctor-clinic.org)
Prevention2
- BACKGROUND Αlpha (α)-thalassemia is a global health concern, and improving screening methods is crucial for disease prevention. (ui.ac.id)
- These findings have important implications for thalassemia prevention and management programs and may contribute to reducing the burden of thalassemia in the global population. (ui.ac.id)
Molecular1
- Molecular basis of α-thalassemia. (ui.ac.id)
Results2
- Based on results of this study, the American Diabetes Association (ADA) recommends routine glycated hemoglobin testing to measure long-term control of blood sugar. (yourdictionary.com)
- Poisoning by nitrite (or nitrate after its conversion to nitrite) results in the inability of hemoglobin to carry oxygen throughout the body. (yourdictionary.com)
Evaluation1
- Evaluation of thalassemia screening program by using red blood count in pregnant women at Hung Vuong Hospital, Ho Chi Minh City, Vietnam. (ui.ac.id)
Beta5
- [2] There are two main types, alpha thalassemia and beta thalassemia . (drpareshmajumder.com)
- Hemoglobin, the part of red blood cells that carries oxygen, is made up of two different proteins, called alpha and beta. (doctor-clinic.org)
- Some patients with beta-thalassemia have no normal hemoglobin - only hemoglobin S and the minor hemoglobins. (doctor-clinic.org)
- The prognosis for beta-thalassemia varies. (doctor-clinic.org)
- Beta thalassemia. (ui.ac.id)
Production1
- ''Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. (drpareshmajumder.com)
Bound1
- Glycated hemoglobin -A test that measures the amount of hemoglobin bound to glucose. (yourdictionary.com)
Genes1
- Alpha(+) thalassemia is subclassified into the following 3 general forms on the basis of the number of inherited alpha genes. (medscape.com)
Protein2
- Hemoglobin is an iron-containing protein that resides within the red blood cells. (yourdictionary.com)
- A very small fraction of hemoglobin spontaneously oxidizes per day, producing a protein of a slightly different structure called methemoglobin. (yourdictionary.com)
Blood5
- Thalassemia is the name of a group of inherited blood disorders. (doctor-clinic.org)
- If you are anemic, you have too little hemoglobin because you have too few red blood cells. (yourdictionary.com)
- Glycated hemoglobin is a test that indicates how much glucose was in a person's blood during a two- to three-month window beginning about four weeks prior to sampling. (yourdictionary.com)
- Hemoglobin is the red pigment that gives red blood cells their characteristic color and their essential ability to transport oxygen. (yourdictionary.com)
- Iron is essential for the formation of hemoglobin , the chemical in the blood that carries oxygen to the cells. (yourdictionary.com)
Patients2
- patients with thalassemia minor can expect a normal life span. (doctor-clinic.org)
- Economic burden in the management of transfusion-dependent thalassaemia patients in Malaysia from a societal perspective. (ui.ac.id)
Normal1
- The normal range for glycated hemoglobin measured as HbA 1c is 3 to 6 percent. (yourdictionary.com)
Forms2
- In all, there are 4 general forms of alpha thalassemia. (medscape.com)
- Iron supplements are contraindicated in all forms of thalassemia. (doctor-clinic.org)
Overview1
- Angastiniotis M, Lobitz S. Thalassemias: an overview. (ui.ac.id)
Disease1
- CONCLUSIONS Optimizing the screening methods for α-thalassemia is important for preventing and managing the disease in the community. (ui.ac.id)
Minor1
- Thalassemia intermedia and thalassemia minor generally don't require treatment. (doctor-clinic.org)
Iron1
- Methemoglobin-A compound formed from hemoglobin by oxidation of its iron component. (yourdictionary.com)
Life1
- Hydrops fetalis is incompatible with extrauterine life. (medscape.com)