A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
Pyridine derivatives with one or more keto groups on the ring.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
An individual in which both alleles at a given locus are identical.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.
The condition of being heterozygous for hemoglobin S.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
An individual having different alleles at one or more loci regarding a specific character.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Measurement of hemoglobin concentration in blood.
A member of the NICOTINIC ACETYLCHOLINE RECEPTOR subfamily of the LIGAND-GATED ION CHANNEL family. It consists entirely of pentameric a7 subunits expressed in the CNS, autonomic nervous system, vascular system, lymphocytes and spleen.
Surgical procedure involving either partial or entire removal of the spleen.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.

A complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassaemia homozygosity. (1/248)

The occurrence of point mutation alpha-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of severe phenotypes is bound to increase in the near future because of the endogamous growth of the ethnical minorities and the lack of prevention. We describe an Afghan family in which both partners of a consanguineous relationship are carriers of a beta- as well as an alpha-thalassaemia determinant. The combination of defects was revealed by the in vitro measurement of the beta/alpha biosynthetic ratio and was characterised at the DNA level. The molecular defects involved are the Cd5(-CT), a Mediterranean beta zero-thalassaemia mutation, and the alpha 2(zero/+)-thalassaemia AATA(-AA) polyadenylation defect. The alpha-thalassemia defect is a rare RNA-processing mutant described only twice before in heterozygous form in Asian-Indian patients. The mutation suppresses the expression of a alpha 2 gene and reduces the expression of the less efficient, 3' located alpha 1 gene as well, inducing a near alpha zero-thalassaemia phenotype. This defect is now described for the first time in the homozygous condition in one of the children who, in addition to being homozygous for the alpha-thalassaemia point mutation, is also a carrier of the beta zero-thalassaemia defect. A previously described homozygous case of the alpha (zero/+)-thalassaemia condition, caused by a similar polyadenylation defect, was characterised by a severe HbH disease. However, the patient described here present at 7 years of age with severe caries, like his beta-thalassaemia homozygous brother but without hepatosplenomegaly, haemolysis or severe anaemia. The haematological analysis revealed 9.5 g/dl Hb; 5.4 x 10(12)/I RBC; 0.33 I/I PCV; 61 fl MCV; 17.6 pg MCH and 6.2% of HbA2. The biosynthetic ratio beta:alpha was 1.6 and no HbH fraction was detectable either on electrophoresis or as inclusion bodies. The parents reported no complications during pregnancy, at birth, or in the neonatal period in rural Afghanistan. We presume therefore that the counterbalancing effect induced by the co-existing beta-thalassaemia defect could have modified a potentially severe perinatal HbH disease into a strongly hypochromic but well compensated 'alpha zero-like heterozygous' thalassaemia phenotype. The risk of a severe HbH disease, could have been easily missed in this family which was referred because of a child affected with beta-thalassaemia major.  (+info)

Cardiac blood flow studies in fetuses with homozygous alpha-thalassemia-1 at 12-13 weeks of gestation. (2/248)

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 develop anemia as early as the first trimester. Our objective was to study hemodynamic indices in affected fetuses at 12-13 weeks of gestation to determine whether these would be useful in the prediction of anemia. DESIGN: Prospective observational study. SUBJECTS: Women referred before 14 weeks of gestation for the prenatal diagnosis of homozygous alpha-thalassemia-1. METHODS: Transabdominal and/or transvaginal Doppler sonography was performed to measure the flow velocities in the fetal ascending aorta and pulmonary artery at 12-13 weeks. The Doppler indices were compared between those that were subsequently confirmed to be affected by homozygous alpha-thalassemia-1 and those that were unaffected. RESULTS: Between June 1997 and April 1998, 60 eligible women were recruited. Doppler examination was successful in 58 fetuses. Of these, 22 were subsequently confirmed to be affected by homozygous alpha-thalassemia-1. The diagnosis was made by chorionic villus sampling and DNA analysis in two affected fetuses and by cordocentesis and hemoglobin evaluation in 20 affected fetuses. Hemoglobin concentrations could be measured in ten fetuses and these ranged from 4 to 8 g/dl. The affected fetuses had significantly higher peak velocities at the pulmonary valve and ascending aorta and a larger inner diameter of the pulmonary valve than that in unaffected fetuses. The total cardiac output was increased by one-third in affected fetuses and was mainly due to an increase of the right-side cardiac output. CONCLUSION: In the early stage of anemia, the fetus responds mainly by increasing its right-side cardiac output. However, there is extensive overlap of the values of cardiac output between the affected and the unaffected fetuses, precluding its use in the prediction of anemia.  (+info)

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. (3/248)

We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutation analysis to cases with a negative family history. This study includes 21 mentally retarded male patients selected because they had severe mental retardation and a typical facial appearance. The presence of haemoglobin H or urogenital abnormalities was not considered critical for inclusion in this study. We have identified six mutations which represents a mutation detection rate of 28%. This figure is high enough for us to propose this strategy as a valid first level of screening in a selected subset of males with mental retardation. This approach is simple, does not require RNA preparation, does not involve time consuming mutation detection methods, and can thus be applied to a large number of patients at a low cost in any given laboratory.  (+info)

Intrathoracic extramedullary haematopoiesis complicated by massive haemothorax in alpha-thalassaemia. (4/248)

Intrathoracic extramedullary haematopoiesis (EMH) is a rare entity that is usually asymptomatic. A 44 year old man with alpha-thalassaemia is described who developed dyspnoea and massive left sided haemothorax. The haemoglobin disorder was established by Hgb H staining and haemoglobin electrophoretic studies. The DNA analysis revealed it to be a case of double heterozygous terminal codon mutation with the genotype alphaalphaCS/alphaalphaT. Computed tomographic scanning and magnetic resonance imaging of the thorax showed multiple paravertebral masses which were found by thoracoscopic biopsy to be extramedullary haematopoiesis. Although no additional sclerosing pleurodesis or low dose radiation therapy was given, the lung expanded well and there has been no recurrence of haemothorax to date.  (+info)

Impairment of Plasmodium falciparum growth in thalassemic red blood cells: further evidence by using biotin labeling and flow cytometry. (5/248)

Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from alpha-thalassemia patients (both alpha-thalassemia1/alpha-thalassemia2 and alpha-thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas.  (+info)

The contribution of alpha+-thalassaemia to anaemia in a Nigerian population exposed to intense malaria transmission. (6/248)

The proportion to which alpha-thalassaemia contributes to anaemia in Africa is not well recognized. In an area of intense malaria transmission in South-West Nigeria, haematological parameters of alpha-thalassaemia were examined in 494 children and 119 adults. The -alpha3.7 type of alpha+-thalassaemia was observed at a gene frequency of 0.27. Nine and 36.5% of individuals were homozygous and heterozygous, respectively. P.falciparum-infection was present in 78% of children and in 39% of adults. The alpha-globin genotypes did not correlate with the prevalence of P. falciparum-infection. alpha+-thalassaemic individuals had significantly lower mean values of haemoglobin, mean corpuscular volume, and mean corpuscular haemoglobin than non-thalassaemic subjects. Anaemia was seen in 54. 7% of children with a normal alpha-globin genotype, in 69.9% of heterozygous (odds ratio: 1.99, 95% confidence interval: 1.32-3.00, P = 0.001), and in 88.4% of homozygous alpha+-thalassaemic children (odds ratio: 7.72, 95% confidence interval: 2.85-20.90, P = 0.0001). The findings show that alpha+-thalassaemia contributes essentially to mild anaemia, microcytosis, and hypochromia in Nigeria.  (+info)

A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice. (7/248)

Thalassemia is a heritable human anemia caused by a variety of mutations that affect expression of the alpha- or the beta-chain of hemoglobin. The expressivity of the phenotype is likely to be influenced by unlinked modifying genes. Indeed, by using a mouse model of alpha-thalassemia, we find that its phenotype is strongly influenced by the genetic background in which the alpha-thalassemia mutation resides [129(sv/ev)/129(sv/ev) (severe) or 129(sv/ev)/C57BL/6 (mild)]. Linkage mapping indicates that the modifying gene is very tightly linked to the beta-globin locus (Lod score = 13.3). Furthermore, the severity of the phenotype correlates with the size of beta-chain-containing inclusion bodies that accumulate in red blood cells and likely accelerate their destruction. The beta-major globin chains encoded by the two strains differ by three amino acids, one of which is a glycine-to-cysteine substitution at position 13. The Cys-13 should be available for interchain disulfide bridging and consequent aggregation between excess beta-chains. This normal polymorphic variation between murine beta-globin chains could account for the modifying action of the unlinked beta-globin locus. Here, the variation in severity of the phenotype would not depend on a change in the ratio between alpha- and beta-chains but on the chemical nature of the normal beta-chain, which is in excess. This work also indicates that modifying genes can be normal variants that-absent an apparent physiologic rationale-may be difficult to identify on the basis of structure alone.  (+info)

Nuchal translucency in fetuses affected by homozygous alpha-thalassemia-1 at 12-13 weeks of gestation. (8/248)

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. METHODS: Nuchal translucency was measured prospectively in fetuses at risk of homozygous alpha-thalassemia-1. Measurements of those fetuses subsequently confirmed to be affected by homozygous alpha-thalassemia-1 but with a normal karyotype were compared to those of 440 controls. The controls were from the general obstetric population who had NT measurements at 12 or 13 weeks with known normal outcome. All the NT measurements were expressed as multiples of the median (MoM) for the gestational day. RESULTS: Between 1996 and 1998, 94 at-risk pregnancies were studied. Of these, 32 were subsequently confirmed to be affected by homozygous alpha-thalassemia-1. Chromosome study was not carried out in three cases and these were excluded from the analysis. Nuchal translucency MoMs for cases and controls were found to fit a log Gaussian distribution. The log means (standard deviation) for case and control NT MoM were 0.075 (0.156) and -0.0019 (0.091), respectively. The median NT MoM (95% CI) for cases was 1.19 (1.08-1.62) and was significantly higher than that of the controls (p < 0.001). However, there was extensive overlap of NT between cases and controls. CONCLUSION: Overall, there was a 19% increase in NT MoM in fetuses affected by homozygous alpha-thalassemia-1. This represents a difference of only 0.3-0.4 mm, which is clinically insignificant. This finding indirectly suggests that the increased NT in trisomic fetuses cannot be explained by fetal anemia. Conversely, the presence of increased NT in a fetus at risk of homozygous alpha-thalassemia-1 should alert one to the possibility of chromosomal abnormality rather than being attributed to fetal anemia.  (+info)

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia. Alpha-thalassemia is caused by abnormalities in the production of the alpha-globin chain, which is one of the two chains that make up hemoglobin. Beta-thalassemia is caused by abnormalities in the production of the beta-globin chain.

Thalassemia can cause a range of symptoms, including anemia, fatigue, pale skin, and shortness of breath. In severe cases, it can lead to life-threatening complications such as heart failure, liver failure, and bone deformities. Thalassemia is usually diagnosed through blood tests that measure the levels of hemoglobin and other proteins in the blood.

There is no cure for thalassemia, but treatment can help manage the symptoms and prevent complications. Treatment may include blood transfusions, folic acid supplements, and medications to reduce the severity of anemia. In some cases, bone marrow transplantation may be recommended.

Preventive measures for thalassemia include genetic counseling and testing for individuals who are at risk of inheriting the disorder. Prenatal testing is also available for pregnant women who are carriers of the disorder. In addition, individuals with thalassemia should avoid marriage within their own family or community to reduce the risk of passing on the disorder to their children.

Overall, thalassemia is a serious and inherited blood disorder that can have significant health implications if left untreated. However, with proper treatment and management, individuals with thalassemia can lead fulfilling lives and minimize the risk of complications.

There are two main forms of alpha-Thalassemia:

1. Alpha-thalassemia major (also known as Hemoglobin Bart's hydrops fetalis): This is a severe form of the disorder that can cause severe anemia, enlarged spleen, and death in infancy. It is caused by a complete absence of one or both of the HBA1 or HBA2 genes.
2. Alpha-thalassemia minor (also known as Hemoglobin carrier state): This form of the disorder is milder and may not cause any symptoms at all. It is caused by a partial deletion of one or both of the HBA1 or HBA2 genes.

People with alpha-thalassemia minor may have slightly lower levels of hemoglobin and may be more susceptible to anemia, but they do not typically experience any severe symptoms. Those with alpha-thalassemia major, on the other hand, are at risk for serious complications such as anemia, infections, and organ failure.

There is no cure for alpha-thalassemia, but treatment options include blood transfusions, iron chelation therapy, and management of associated complications. Screening for alpha-thalassemia is recommended for individuals who are carriers of the disorder, as well as for those who have a family history of the condition.

The most common types of hemoglobinopathies include:

1. Sickle cell disease: This is caused by a point mutation in the HBB gene that codes for the beta-globin subunit of hemoglobin. It results in the production of sickle-shaped red blood cells, which can cause anemia, infections, and other complications.
2. Thalassemia: This is a group of genetic disorders that affect the production of hemoglobin and can result in anemia, fatigue, and other complications.
3. Hemophilia A: This is caused by a defect in the F8 gene that codes for coagulation factor VIII, which is essential for blood clotting. It can cause bleeding episodes, especially in males.
4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency: This is caused by a point mutation in the G6PD gene that codes for an enzyme involved in red blood cell production. It can cause hemolytic anemia, especially in individuals who consume certain foods or medications.
5. Hereditary spherocytosis: This is caused by point mutations in the ANK1 or SPTA1 genes that code for proteins involved in red blood cell membrane structure. It can cause hemolytic anemia and other complications.

Hemoglobinopathies can be diagnosed through genetic testing, such as DNA sequencing or molecular genetic analysis. Treatment options vary depending on the specific disorder but may include blood transfusions, medications, and in some cases, bone marrow transplantation.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is the most severe form of the condition, and it can cause serious health problems and a shortened lifespan if left untreated. Children with this condition are typically diagnosed at birth or in early childhood, and they may require regular blood transfusions and other medical interventions to manage their symptoms and prevent complications.
2. Beta-thalassemia minor (also known as thalassemia trait): This is a milder form of the condition, and it may not cause any noticeable symptoms. People with beta-thalassemia minor have one mutated copy of the HBB gene and one healthy copy, which allows them to produce some normal hemoglobin. However, they may still be at risk for complications such as anemia, fatigue, and a higher risk of infections.

The symptoms of beta-thalassemia can vary depending on the severity of the condition and the age of onset. Common symptoms include:

* Fatigue
* Weakness
* Pale skin
* Shortness of breath
* Frequent infections
* Yellowing of the skin and eyes (jaundice)
* Enlarged spleen

Beta-thalassemia is most commonly found in people of Mediterranean, African, and Southeast Asian ancestry. It is caused by mutations in the HBB gene, which is inherited from one's parents. There is no cure for beta-thalassemia, but it can be managed with blood transfusions, chelation therapy, and other medical interventions. Bone marrow transplantation may also be a viable option for some patients.

In conclusion, beta-thalassemia is a genetic disorder that affects the production of hemoglobin, leading to anemia, fatigue, and other complications. While there is no cure for the condition, it can be managed with medical interventions and bone marrow transplantation may be a viable option for some patients. Early diagnosis and management are crucial in preventing or minimizing the complications of beta-thalassemia.

Symptoms of iron overload can include fatigue, weakness, joint pain, and abdominal discomfort. Treatment for iron overload usually involves reducing iron intake and undergoing regular phlebotomy (blood removal) to remove excess iron from the body. In severe cases, iron chelation therapy may be recommended to help remove excess iron from tissues and organs.

In addition to these medical definitions and treatments, there are also some key points to keep in mind when it comes to iron overload:

1. Iron is essential for human health, but too much of it can be harmful. The body needs a certain amount of iron to produce hemoglobin, the protein in red blood cells that carries oxygen throughout the body. However, excessive iron levels can damage organs and tissues.
2. Hereditary hemochromatosis is the most common cause of iron overload. This genetic disorder causes the body to absorb too much iron from food, leading to its accumulation in organs and tissues.
3. Iron overload can increase the risk of certain diseases, such as liver cirrhosis, diabetes, and heart disease. It can also lead to a condition called hemosiderosis, which is characterized by the deposition of iron in tissues and organs.
4. Phlebotomy is a safe and effective treatment for iron overload. Regular blood removal can help reduce excess iron levels and prevent complications such as liver damage, heart failure, and anemia.
5. Iron chelation therapy may be recommended in severe cases of iron overload. This involves using drugs to remove excess iron from tissues and organs, but it is not always necessary and can have potential side effects.

Sickle cell anemia is caused by mutations in the HBB gene that codes for hemoglobin. The most common mutation is a point mutation at position 6, which replaces the glutamic acid amino acid with a valine (Glu6Val). This substitution causes the hemoglobin molecule to be unstable and prone to forming sickle-shaped cells.

The hallmark symptom of sickle cell anemia is anemia, which is a low number of healthy red blood cells. People with the condition may also experience fatigue, weakness, jaundice (yellowing of the skin and eyes), infections, and episodes of severe pain. Sickle cell anemia can also increase the risk of stroke, heart disease, and other complications.

Sickle cell anemia is diagnosed through blood tests that measure hemoglobin levels and the presence of sickle cells. Treatment typically involves managing symptoms and preventing complications with medications, blood transfusions, and antibiotics. In some cases, bone marrow transplantation may be recommended.

Prevention of sickle cell anemia primarily involves avoiding the genetic mutations that cause the condition. This can be done through genetic counseling and testing for individuals who have a family history of the condition or are at risk of inheriting it. Prenatal testing is also available for pregnant women who may be carriers of the condition.

Overall, sickle cell anemia is a serious genetic disorder that can significantly impact quality of life and life expectancy if left untreated. However, with proper management and care, individuals with the condition can lead fulfilling lives and manage their symptoms effectively.

Sickle cell trait is relatively common in certain populations, such as people of African, Mediterranean, or Middle Eastern descent. It is estimated that about 1 in 12 African Americans carry the sickle cell gene, and 1 in 500 are homozygous for the trait (meaning they have two copies of the sickle cell gene).

Although people with sickle cell trait do not develop sickle cell anemia, they can experience certain complications related to the trait. For example, they may experience episodes of hemolytic crisis, which is a condition in which red blood cells are destroyed faster than they can be replaced. This can occur under certain conditions, such as dehydration or infection.

There are several ways that sickle cell trait can affect an individual's life. For example, some people with the trait may experience discrimination or stigma based on their genetic status. Additionally, individuals with sickle cell trait may be more likely to experience certain health problems, such as kidney disease or eye damage, although these risks are generally low.

There is no cure for sickle cell trait, but it can be managed through proper medical care and self-care. Individuals with the trait should work closely with their healthcare provider to monitor their health and address any complications that arise.

Overall, sickle cell trait is a relatively common genetic condition that can have significant implications for an individual's life. It is important for individuals with the trait to understand their risk factors and take steps to manage their health and well-being.

The main symptoms of hemosiderosis include:

1. Yellowish discoloration of the skin and eyes (jaundice)
2. Fatigue, weakness, and shortness of breath
3. Abdominal pain, nausea, and vomiting
4. Pale or clay-colored stools
5. Dark urine
6. Liver enlargement and tenderness
7. Heart failure
8. Arrhythmias (irregular heart rhythms)
9. Anemia
10. Weight loss and loss of appetite

Hemosiderosis is diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies such as ultrasound, CT scan, or MRI. Treatment options for hemosiderosis depend on the underlying cause of the condition and may include:

1. Iron chelation therapy to remove excess iron from the body
2. Blood transfusions to reduce iron levels
3. Dietary modifications to limit iron intake
4. Medications to manage symptoms such as anemia, liver failure, or heart problems
5. Surgery to remove affected tissues or organs in severe cases

It is important to seek medical attention if you experience any of the symptoms of hemosiderosis, especially if you have a history of excessive iron intake or chronic blood transfusions. Early diagnosis and treatment can help prevent complications and improve outcomes for this condition.

Delta-Thalassemia is classified into two main types: delta-plus-thalassemia and delta-beta-thalassemia. Delta-plus-thalassemia is the more severe form of the disorder and is characterized by a complete absence of delta-globin chain production, resulting in severe anemia and often death before the age of two. Delta-beta-thalassemia is a milder form of the disorder and is characterized by reduced production of delta-globin chains, which can lead to mild anemia or no anemia at all.

Delta-Thalassemia is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated HBB gene (one from each parent) to develop the disorder. Carriers of the disorder, who have one normal copy of the HBB gene and one mutated copy, are generally asymptomatic but can pass the mutated gene to their children.

There is currently no cure for delta-Thalassemia, but treatment options include blood transfusions, folic acid supplements, and bone marrow transplantation. The prognosis for patients with delta-Thalassemia depends on the severity of the disorder and can vary from mild to severe.

... (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H ... Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. Alpha-thalassemia can be mistaken ... can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia ...
There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how ... Hemoglobin-Alpha locus 2; HBA2 - 141850 Galanello, Renzo; Cao, Antonio (5 January 2011). "Alpha-thalassemia". Genetics in ... Herbert l. Muncie, Jr; Campbell, James S. (15 August 2009). "Alpha and Beta Thalassemia". American Family Physician. 80 (4): ... Mild thalassemia: people with thalassemia traits do not require medical or follow-up care after the initial diagnosis is made. ...
"alpha thalassemia". Genetics Home Reference. NIH U.S. National Library of Medicine. 14 November 2017. Whetstine JR (2010). " ... In a class of alpha-thalassemia, a type of blood disorder that has reduced level of hemoglobin leading to insufficient oxygen ...
Alpha-thalassemia. Normal adult hemoglobin is composed of two alpha and two beta chains. Alpha thalassemia patients have ... partial or complete defects in alpha globin production, leading to a relative abundance of beta globin chains in the cell. ...
NKX2E Thalassemia, alpha-; 604131; HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant ... OGDH Alpha-methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha- ... inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ...
Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ... Delta-beta thalassemia can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 ... Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of hemoglobin subunit delta and ... Delta-beta thalassemia is considered rare. Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes ...
"Alpha and beta thalassemia". American Family Physician. 80 (4): 339-44. PMID 19678601. "Beta thalassemia". Genetics Home ... Beta thalassemia is an inherited genetic mutation in one (Beta thalassemia minor) or both (Beta thalassemia major) of the Beta ... Beta thalassemia major occurs when a person inherits two abnormal alleles. This can be either two β+ alleles, two β0 alleles, ... Beta thalassemia minor occurs when an individual inherits one normal Beta allele and one abnormal Beta allele (either β0, or β+ ...
... making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H ... "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. van der Dijs FP, Volmer M, van Gijssel-Wiersma ... It is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in ... It is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. Anemia is a factor in ...
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/ ... For example, ATRX mutations affect the expression of alpha-globin gene cluster, causing alpha-thalassemia." ATRX interacts with ... Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no ...
GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/ ... "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)". Wong LH, McGhie JD, ... Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (November 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) ... Alpha-thalassemia mental retardation syndrome GRCh38: Ensembl release 89: ENSG00000085224 - Ensembl, May 2017 GRCm38: Ensembl ...
... is a type of alpha thalassemia caused by impaired production of three of the four alpha globins, coded by ... Hemoglobin Barts "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. v t e (Articles with short ...
GeneCard for CXorf26 Aceview Gene Annotation Stevenson RE (2000). "Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ... and when mutated causes an X-linked mental retardation syndrome along with alpha thalassemia syndrome; both are known to cause ... Conservation of the domain is especially high in areas which include one of the multiple alpha helices or beta sheets. There ... Experimental evidence in the yeast homolog shows 4 alpha helices and 2 beta sheets all in the polysaccharide domain, just as ...
Alpha thalassemia X-linked syndrome, which can be caused by hypomethylation in certain repeat sequences. Symptoms include ... "Alpha Thalassemia X-Linked Intellectual Disability Syndrome". Genetics Home Reference. US National Library of Medicine. April ... Symptoms include intellectual impairment and alpha thalassemia. Cancerous stem cells, caused by misregulation of polycomb ...
Severely anemic fetuses, including those with Rh disease and alpha thalassemia major, can be treated with blood transfusions ... Vichinsky, Elliott P. (2009-01-01). "Alpha thalassemia major-new mutations, intrauterine management, and outcomes". Hematology ... Maternal syphilis and maternal diabetes mellitus Alpha-thalassemia can also cause hydrops fetalis when all four of the genetic ...
Alpha-thalassemias most commonly result from deletions of any of the four alpha alleles, although some alpha thalassemias have ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM entries on Alpha-Thalassemia This article incorporates text from the ... Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. The human alpha ... Ribeiro DM, Sonati MF (2008). "Regulation of human alpha-globin gene expression and alpha-thalassemia". Genetics and Molecular ...
Alpha thalassemia is usually self-limiting, but in some cases may require a blood transfusion or chelating treatment. The ... People with ATR-16 have alpha-thalassemia, a blood disorder where there is less normal hemoglobin in the blood than there ... "Orphanet: Alpha thalassemia intellectual disability syndrome linked to chromosome 16 ATR 16 syndrome". www.orpha.net. Retrieved ... "OMIM Entry - # 141750 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED". omim.org. Retrieved 2015-10-28 ...
The main types of thalassemia are alpha-thalassemia and beta thalassemia. The two conditions may overlap because some ... Throughout life, the synthesis of the alpha-like and the beta-like (also called non-alpha-like) chains is balanced so that ... The specific alpha and beta-like chains that are incorporated into Hb are highly regulated during development:[citation needed ... Normal human hemoglobins are tetrameric proteins composed of two pairs of globin chains, each of which contains one alpha-like ...
GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM entries on Alpha-Thalassemia Overview of all the structural information ... 2007). "Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance ... alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes ... Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ...
... a form of alpha-thalassemia, an abnormal band of hemoglobin H can be detected, and sometimes a band of Hemoglobin Barts; but in ... In beta-thalassemia major, hemoglobin A is decreased (or in some cases absent) and hemoglobin F is markedly elevated; A2 levels ... the milder alpha-thalassemia trait, electrophoresis results are effectively normal. Linus Pauling is credited with the ... Hemoglobin A2 levels are typically elevated in beta-thalassemia minor and hemoglobin F may be slightly increased. ...
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a ... One of the chains is an alpha chain and the other is a non-alpha chain. Non-alpha chain nature in hemoglobin molecules varies ... The beta chain will pair with the alpha chain. It is the combining of two alpha and non-alpha chains which create a hemoglobin ... are diagnosed with β-thalassemia or intermedia. Due to the lack of beta-globin, accumulation of alpha-globin subunits and alpha ...
2006). "Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia". Ann. N. Y. Acad. Sci. 1054 ... 2004). "Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia". ... 2002). "Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein". J. Biol. Chem. ... 2007). "Reversible hexacoordination of alpha-hemoglobin-stabilizing protein (AHSP)/alpha-hemoglobin Versus pressure. Evidence ...
He became interested in thalassemia after attending to an infant with alpha-thalassemia. After the fellowship, Kan briefly ... Then, building on his finding that alpha-thalassemia was caused by a gene deletion, he designed a DNA-based test for the ... Kan and his collaborators found the deletion of a gene was the cause of alpha-thalassemia, the first demonstration of its kind ... "Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)". Nature. 251 (5474 ...
The work investigated malaria parasite species interactions and host protection by alpha thalassaemia. Since 2000, Maitland has ...
It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ... Hemoglobin Constant Spring is a variant of hemoglobin in which a mutation in the alpha globin gene produces an alpha globin ... Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ... Another reason is that the Constant Spring alpha chain protein is itself unstable. The result is a thalassemic phenotype. ...
Near Fixation of the Alpha Thalassemia Gene in a Nepalese Population". American Journal of Human Genetics. 48 (2): 390-397. PMC ... This was confirmed by follow-up investigation finding genes for thalassemia in nearly all Tharu studied. Barsha Lekhi - Miss ...
Orkin SH, Michelson A (July 1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. GRCh38: Ensembl release ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while ... The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes ...
Orkin SH, Michelson A (1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. 286 ( ... Proudfoot NJ, Maniatis T (1980). "The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene ... Hemoglobin, alpha pseudogene 1, also known as HBAP1, is a human gene. GRCh38: Ensembl release 89: ENSG00000225323 - Ensembl, ... Safaya S, Rieder RF (1988). "Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion ...
"Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ... "Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2011-03-03. "Sickle Cell Trait and ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. 16 (3): 187-94. doi:10.1097/MOH. ...
Alpha-thalassemia, like sickle cell trait, is typically inherited in areas with increased exposure to malaria. It manifests ... In endurance-trained individuals with sickle cell trait the presence of alpha-thalassemia has been shown to act protectively ... December 1991). "Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of ... and α-Thalassemia in Athletes: Effects of Exercise". Medicine and Science in Sports and Exercise. 37 (7): 1086-92. doi:10.1249/ ...
... major is usually fatal in infancy if blood transfusions are not initiated immediately. Alpha-thalassemia ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from ...
Kulozik AE, Bellan-Koch A, Bail S, Kohne E, Kleihauer E (May 1991). "Thalassemia intermedia: moderate reduction of beta globin ... November 1993). "A third recognition element in bacterial promoters: DNA binding by the alpha subunit of RNA polymerase". ... Examples include: Asthma Beta thalassemia Rubinstein-Taybi syndrome Some promoters are called constitutive as they are active ... subsite structure of UP elements and interactions with the carboxy-terminal domain of the RNA polymerase alpha subunit". Genes ...
... has been proposed as a candidate for reactivation in cases of severe α thalassemia or hemoglobinopathies afflicting the alpha ... It is composed of two alpha chains and two epsilon chains, and is somewhat unstable, though not as much as hemoglobin Gower 1. ... J. Eric Russell; Stephen A. Leibhaber (November 1998). "Reversal of Lethal α- and β-Thalassemias in Mice by Expression of Human ... alpha(2)epsilon(2)), and Portland-2 (zeta(2)beta(2)) assembled in complex transgenic-knockout mice". Blood. 97 (4): 1099-1105. ...
Aaseth has studies the effects of disease-modifying agents including anti-TNF-alpha drugs and also selenium compounds. Some of ... Iron deposition in the heart which is seen in transfusional sideroses, e.g., during treatment of thalassemia can precipitate ... in thalassemia can be treated by oral iron chelators, deferiprone (Ferriprox) and deferasirox (Exjade) which can be ...
Mutations in the delta-globin gene are associated with Delta-thalassemia. Hemoglobin Human β-globin locus Thalassemia GRCh38: ... Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. Five ... The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ...
... alpha pseudogene 1 HBHR, ATR1: Alpha-thalassemia/mental retardation syndrome, type 1 HIRIP3: encoding protein HIRA-interacting ... Synesthesia Thalassemia Trisomy 16 Morquio syndrome Red hair G-banding ideograms of human chromosome 16 "Human Genome Assembly ... Alpha-hemoglobin-stabilizing protein FAHD1: Fumarylacetoacetate hydrolase domain-containing protein 1 FAM57B: Family with ...
... alpha thalassemia major) from both parents. The etiopathogenetic mechanism of Ballantyne syndrome remains unknown. Ballantyne ... can result from the maternal reaction to a fetus that has hemoglobin Barts disease due to inherited double alpha thalassemia ...
β-thalassemia, one of the most common congenital anemias, arises from partial or complete lack of β-globin synthesis. Excessive ... Pandur E, Nagy J, Poór VS, Sarnyai A, Huszár A, Miseta A, Sipos K (April 2009). "Alpha-1 antitrypsin binds preprohepcidin ... Patients with β-thalassemia also have low hepcidin levels. The observations led researchers to hypothesize that more iron is ... This conversion may be regulated by alpha-1 antitrypsin. Hepcidin is a tightly folded polypeptide with 32% beta sheet character ...
Other chelating agents, such as 2,3-dimercaptopropanesulfonic acid (DMPS) and alpha lipoic acid (ALA), are used in conventional ... Crisponi, Guido; Nurchi, Valeria M.; Lachowicz, Joanna (2019). "Chapter 3. Iron Chelation for Iron Overload in Thalassemia". In ... including in cases of sickle-cell disease and thalassemia), arsenic, lead, uranium, plutonium and other forms of toxic metal ... "Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia". The ...
HbO is usually harmless unlike other hemoglobin variants such as HbS and thalassemias, even under combination with these ... alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient". ... "The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs". Human Genetics. 70 (2): 119-125. doi ... in Association with β-Thalassemia". Hemoglobin. 2 (1): 59-63. doi:10.3109/03630267808999189. PMID 640843. Saechan, Vannarat; ...
as PDF Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T (June 2008). "Detection of alpha-thalassemia-1 Southeast ...
Alpha Science Intl. p. 600. ISBN 9781842654552. Babasaheb Bhimrao Ambedkar University Indian Science Congress Association ... regional centres and colleges in rural areas and initiated programs to provide preferential admission to AIDS/Thalassemia ...
In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma ... Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ...
... alpha-thalassemia in all countries except Egypt, Syria, and Iraq, cystic fibrosis in Iraq Saudi Yemen Libya Morocco, familial ... alpha-thalassemia, molecular characterization, recessive osteoperosis, gluthanione-reducatsafe DEf. A study about sickle cell ... Tadmouri GO, Gulen RI (November 2003). "Deniz: the electronic database for beta-thalassemia mutations in the Arab world". Saudi ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ...
"Thalassemia". The Lecturio Medical Concept Library. Retrieved 27 July 2021. Kalakonda, Aditya; Jenkins, Bianca A.; John, Savio ... spherocytosis Glucose-6-phosphate dehydrogenase deficiency Pyruvate kinase deficiency ABO/Rh blood type autoantibodies Alpha 1- ... These diseases may cause jaundice due to increased erythrocyte hemolysis: Sickle-cell anemia Spherocytosis Thalassemia Pyruvate ...
She studied the mechanisms of DNA recombination that lead to human alpha-thalassemia in James Shen's laboratory. Under Howard ... Hu, Wei-Shau (1987). Homologous DNA recombination in primate cells of human adult alpha globin gene duplication units. Davis, ... Her dissertation was titled Homologous DNA recombination in primate cells of human adult alpha globin gene duplication units. ...
Alpha-thalassemia has also been found to decrease HbS levels where the co-inheritance of alpha gene deletions reduce red blood ... Co-inheritance of microdeletions in the -globin gene (thalassemia) appear to protect against the development of nephropathy and ...
In 1993, top executives of three companies (Baxter International, Rhône-Poulenc and Alpha Therapeutic) met with leaders of the ... who had hemophilia or the blood disease thalassaemia. Approximately 300 Iranians were infected with the tainted blood, ... The companies involved included Alpha Therapeutic Corporation, Institut Mérieux (which then became Rhone-Poulenc Rorer Inc., ...
If the genes for alpha chains is mutated, the most common condition that occurs is alpha thalassemia, which causes a decrease ... Hb H usually occurs in some alpha thalassemia and is composed of four beta globin (protein) chains. This variant is usually ... The level of severity of alpha thalassemia is determined by the number of genes that are affected.[citation needed] Hemoglobin ... With most of these variants are mutations in the alpha globin gene that result in an abnormally long alpha chain and an ...
... syndrome Allopurinol hypersensitivity syndrome Alopecia contractures dwarfism mental retardation syndrome Alpha-thalassemia ...
... and that different genotypes for alpha-thalassaemia traced different migrations out to the Pacific. Following that work, he ... thalassaemia and malaria. From 1979 he moved into medical research and teaching, with positions at the Liverpool School of ...
Hemoglobin H inclusions - alpha thalassemia, greenish-blue inclusion bodies appear in many erythrocytes after four drops of ...
ALPHA) and then returned to ΕΤ1 and satellite channel ERT WORLD created for Greeks living abroad. She worked as an anchorwoman ... show for children suffering from thalassemia (1987) as well as the TV marathon shows of ERT for UNICEF (2005-2010) and the ... anchorwoman in Alpha (September 2003 - 2005), anchorwoman in ΕΤ - 1 (2005-2010), hostess of show "Greek Panorama" (2-hour live ...
... alpha-mannosidase II or N-acetylglycosaminyltransferase II is defective in CDA II. The anemia associated with CDA type II can ... Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions Fukuda MN (1999). "HEMPAS. ...
... which found that practices to detect alpha-thalassemia varied state to state. ... which found that practices to detect alpha-thalassemia varied state to state. ... Alpha-thalassemia type. Alpha-thalassemia major. Hb H disease. Alpha-thalassemia trait. Silent alpha-thalassemia carrier. Other ... Alpha-thalassemia trait: alpha-thalassemia 2 homozygote or alpha-thalassemia 1 heterozygote. Mild anemia, microcytosis. Hb:. ...
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have ... and the other serious health problems associated with alpha thalassemia.. Two additional forms of alpha thalassemia are related ... medlineplus.gov/genetics/condition/alpha-thalassemia/ Alpha thalassemia. ...
Alpha Thalassaemia and Sickle Cell Disease Educational Community booklet (2014). TIF Publications Beta Thalassaemia, Alpha ... Patients Education Sickle cell TIF Publications Haemoglobin Disorders β-thalassaemia α-thalassaemia ... NEW HOPE FOR THALASSAEMIA/SCD , UK Trial Of Lab Grown Red Blood Cells Begins ... ADVANCED THERAPIES , Vertex, CRISPR To Submit Exa-Cel to FDA For β-Thalassaemia And Sickle Cell Disease ...
Alpha Thalassemia information, news, and community
... alpha alpha/alpha alpha) with those with one (-alpha/alpha alpha) or two (-alpha/-alpha) alpha genes deleted shows that the ... Screening programmes for thalassaemia, based on the detection of low MCVs, could miss cases of the interaction of alpha and ... thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting alpha ... thalassaemia genes. A comparison of the haematological and haemoglobin synthesis findings of individuals with normal alpha ...
... assay for the 6 most frequently observed determinants of alpha-thalassemia. The assay allows simple, high throughput genetic ... Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the ... Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the ... Humans, alpha-Thalassemia, Globins, DNA, DNA Primers, Genetic Screening, Polymerase Chain Reaction, Sequence Deletion, Base ...
... including the impact of varying alpha globin gene variants on sickle cell disease and malaria. ... Ruhl leads clinical research efforts within a translational research team focused on the impact of Alpha thalassemia on human ... Alpha thalassemia and erythroid and non-erythroid effects of alpha globin gene variants ... Screening for Alpha Thalassemia in Healthy Volunteers, NCT02692872. Collection of Human Biospecimens for Basic and Clinical ...
Pattern for alpha-thalassaemia in Yemeni sickle-cell-disease patients  El Hazmi, M.A.; Warsy, A.S. (‎1999)‎ A group of Yemeni ... alpha/alpha alpha]‎ was 0.346, compared to 0.263 in the Hb AA group. The frequency of two gene deletion [‎-alpha/-alpha]‎ was ... The Hb S, alpha- and beta-thalassaemia gene frequency range was 0.005-0.145, 0.01-0.40 and 0.01-0.15 respectively in various ... 0.231 [‎0.0 for the Hb AA group]‎. In one Hb AA case, a triple alpha-gene arrangement [‎alpha alpha ... ...
A reduced mean corpuscular volume (MCV) of of b-thalassaemia trait, five cases of a-thalassaemia trait and one case of db- ... thalassaemia trait. Based on these figures the estimated prevalence rates of b-, a- and db-thalassaemia traits in Baghdad, ... Abstract To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women ... Alpha thalassaemia. Current topics in hematology, 1983, 4:37-97.. Subscribe via RSS ...
Beta thalassemia intermedia; • Alpha thalassemia; is due to reduced alpha global synthesis; gene deletion is the most • common ... Alpha thalassemia trait; has two deletions • hemoglobin H disease; has three deletions • Hydrops fetalis; has 4 deletions • ... Thalassemia Syndromes; it is a heterogeneous group of inherited disorders caused by • mutations that reduce alpha or beta ... Beta thalassemia minor; heterozygotes are usually asymptomatic due to sufficient Beta global • synthesis. ...
Interaction of Hereditary Spherocytosis and Alpha Thalassaemia: A Family Study Acta Haematol (February,2009) ...
... alpha and beta, which are named for the two protein chains that make up normal haemoglobin. Alpha and beta thalassaemia have ... Sickle-cell disease and severe forms of thalassaemia (thalassaemia major) can occur only when both parents are carriers of ... People with thalassaemia are not able to make enough haemoglobin, which is found in red blood cells. When there is not enough ... Thalassaemia major requires regular blood transfusions to maintain an adequate supply of haemoglobin and sustain life. As a ...
alpha-Thalassemia. 2. [disabled in preview]. 0. This preview shows a limited data set. Subscribe for full access, or try a ...
Sumer, Ahmad, Al-Mouzan, Al-Awamy: "Interaction of alpha-thalassemia with other hemoglobinopathies in the eastern province of ...
Investigation for maternal-fetal infections and alpha-thalassemia should be performed in all cases of unexplained fetal hydrops ... The α thalassemia gene is found in 20-30% of the population in Southeast Asia. The fetus was lost within 1 week of the ... The α thalassemia gene is found in 20-30% of the population in Southeast Asia. The fetus was lost within 1 week of the ... The parents were from the Far East, and an earlier pregnancy had ended because of α thalassemia, which is a major cause of ...
Thalassemia - A2 and fetal Hb, Hb electrophoresis, characterization of the molecular defect, quantification of alpha and beta ... Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement ... Usually, thalassemia minor is not detected until a routine hemogram is performed, and, then, it is often mistaken for iron ... An infant with sickle cell anemia or beta thalassemia appears healthy at birth. Clinical manifestations usually do not occur in ...
Charache: But then later on, the same bunch did the alpha thalassemia bit, looking to see if that could be what it was. ... because at this point people knew that there was a lot of alpha thalassemia in the Middle East, and was this some funny ... interaction with alpha thalassemia? Well, it probably wasnt. And then, once the idea of haplotypes came up, this was a new ... Charache: This may be the one where they looked to see if it was alpha thalessemia. I mean, these look like globin ...
Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion. Chui ... for screening couples at risk of having offspring with homozygous alpha-thalassemia [1]. ... Polymorphism in the interferon-alpha gene family. Golovleva, I., Kandefer-Szerszen, M., Beckman, L., Lundgren, E. Am. J. Hum. ...
... and beta-thalassemia, sickle cell disease, pediatric PK deficiency and MDS-associated anemia. In addition to its clinical ... Agios is advancing a robust clinical pipeline of investigational medicines with active and planned programs in alpha- ...
... alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). It can also cause TAC in other conditions in which increased red ... Maternal serum alpha-fetoprotein--a marker of fetal aplastic crisis during intrauterine human parvovirus infection. Lancet 1987 ...
Using this approach, 22 cases were diagnosed of beta-thalassaemia trait, five cases of alpha-thalassaemia trait and one case of ... Thalassaemia genes in Baghdad, Iraq  Yahya, H.I. (‎1996)‎ To estimate the prevalence of thalassaemia genes in Baghdad, a study ... A reduced mean corpuscular volume [‎MCV]‎ of , 80 fl was used as a screening test for thalassaemia in this population, followed ...
The most common hemoglobinopathies are beta (β) thalassemia, alpha (α) thalassemia, sickle cell Hb (HbS), HbC (common in West ... α and β thalassemia: reduced synthesis of structurally normal globin subunits *Imbalance in the quantity of α and β chains ... β thalassemia is most commonly observed in individuals from southern Europe, northern Africa, and India. Sickle cell Hb is ... 90% of α thalassemia is caused by large deletions in the HBA1 and HBA2 genes ...
What Is Alpha Thalassemia?. This is the first part of our series about the condition based on our patient booklet "Fast Facts ... Alpha Thalassemia: Four Gene Changes. This is the fifth part of our series about the condition based on our patient booklet " ... Alpha Thalassemia: Three Gene Changes. This is the fourth part of our series about the condition based on our patient booklet " ... Alpha Thalassemia: Two Gene Changes. This is the third part of our series about the condition based on our patient booklet " ...
Alpha Thalassemia Disease, Hemoglobin H Hemoglobin H Disease Thalassemia alpha Thalassemia, Alpha Thalassemia-alpha alpha- ... Alpha Thalassemia. Disease, Hemoglobin H. Hemoglobin H Disease. Thalassemia alpha. Thalassemia, Alpha. Thalassemia-alpha. alpha ... alpha-Thalassemia - Preferred Concept UI. M0025958. Scope note. A disorder characterized by reduced synthesis of the alpha ... use THALASSEMIA to search ALPHA-THALASSEMIA 1988-92 & HEMOGLOBIN H DISEASE 1982-92. ...
Protein S deficiency Videos, Flashcards, High Yield Notes, & Practice Questions. Learn and reinforce your understanding of Protein S deficiency.
Bakars current research interest includes Free alpha haemoglobin; Biomarker; Beta-thalassemia; Alpha globin gene and Alpha ...
PCR for Thalassemia (alpha 1&2). Thalassemia is a form of genetic disorders caused by globin gene mutations. Thalassemia can be ... thalassemia and β-thalassemia. The screening of α -thalassemia using Multiplex Polymerase Chain Reaction can be conducted by ...
  • Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (nih.gov)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • 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)
  • 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)
  • 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)
  • These lines of investigation offer an opportunity to explore the long-held observations that alpha globin gene deletions reduce the severity of malaria infection and delay or prevent the vascular complications of sickle cell anemia. (nih.gov)
  • The frequency of the most common mutation, the Southeast Asian type of deletion (−− SEA , accounting for 48.54% of all α thalassaemias) was similar to the total of two α + thalassaemia deletions (−α 3.7 and −α 4.2 , accounting for 47.49% of α thalassaemia). (bmj.com)
  • Alpha thalassemias are some of the most common genetic deletions. (nih.gov)
  • To better understand how alpha globin deletions in healthy people affect blood vessels. (nih.gov)
  • Both patients had two α-globin gene deletions (−α3.7/−α3.7), also known as alpha-thalassemia trait, and notably are the only patients in the study with this specific genotype. (businesswire.com)
  • Two types of alpha thalassemia can cause health problems. (medlineplus.gov)
  • The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (medlineplus.gov)
  • However, the percentage of Hb Bart's used for thalassemia classification, the types of alpha-thalassemia reported, and the recipients of this information varied widely. (cdc.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)
  • Alpha chain synthesis is controlled by four alpha genes, two on each copy of chromosome 16. (osmosis.org)
  • And alpha thalassemia is caused by mutations in the alpha genes, most commonly a gene deletion. (osmosis.org)
  • If a person has two defective alpha genes, the person has alpha thalassemia minor, which causes mild symptoms. (osmosis.org)
  • When these genes are missing or altered, thalassemias occur. (hoacny.com)
  • Thalassemias are inherited disorders-that is, they're passed from parents to children through genes. (hoacny.com)
  • People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents. (hoacny.com)
  • You need four genes (two from each parent) to make enough alpha globin protein chains. (hoacny.com)
  • If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. (hoacny.com)
  • If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). (hoacny.com)
  • The alpha globin genes are located on chromosome 16. (hoacny.com)
  • A child inherits four alpha globin genes (two from each parent). (hoacny.com)
  • In this example, the father is missing two alpha globin genes and the mother is missing one alpha globin gene. (hoacny.com)
  • Each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (hemoglobin H disease), four normal genes (no anemia), or one missing gene and three normal genes (silent carrier). (hoacny.com)
  • If one or both of these genes are altered, you'll have beta thalassemia. (hoacny.com)
  • If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). (hoacny.com)
  • Each child has a 25 percent chance of inheriting two normal genes (no anemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major). (hoacny.com)
  • In case of alpha thalassemia, at least one of the alpha globin genes has an abnormality. (indiatimes.com)
  • In beta thalassemia, the beta globin genes are affected. (indiatimes.com)
  • One can only prevent thalassemia as it is inherited (passed from parents to children via genes). (indiatimes.com)
  • Thalassemia develops when faulty genes prevent your body from making the right amount of alpha globin or beta globin chains. (nih.gov)
  • If one or more of the genes is missing, you will have alpha thalassemia, which means your body does not make enough alpha globin protein. (nih.gov)
  • If your parents have mutations in the alpha globin or beta globin genes, or in other genes that affect the alpha or beta globin proteins chains, then you can inherit thalassemia. (nih.gov)
  • People of South Asian descent are more likely than other groups to have at least two missing alpha globin genes, causing more severe alpha thalassemia (hemoglobin H disease or alpha thalassemia major). (nih.gov)
  • The alpha globin genotypes of 55 beta thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting alpha thalassaemia genes. (ox.ac.uk)
  • A comparison of the haematological and haemoglobin synthesis findings of individuals with normal alpha genotypes (alpha alpha/alpha alpha) with those with one (-alpha/alpha alpha) or two (-alpha/-alpha) alpha genes deleted shows that the latter two groups have more balanced globin chain synthesis ratios, higher haemoglobin levels, and larger, better haemoglobinized red cells. (ox.ac.uk)
  • DNA from a Thai infant lacked the psi alpha 1 gene and both alpha genes, but the zeta genes were present. (ox.ac.uk)
  • To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women attending a major maternity care clinic in the city. (who.int)
  • Some studies have focused on the prevalence of thalassaemia genes in some Middle Eastern countries [1-4], but none were from Iraq, in spite of evidence suggesting that thalassaemias are not uncommon among Iraqis [5]. (who.int)
  • A comprehensive national survey of the distribution of the sickle-cell [‎Hb S]‎ gene and thalassaemia genes was initiated in 1982, with more than 30,055 blood samples collected. (who.int)
  • Part of the DNA is missing from a group of genes called alpha globin. (nih.gov)
  • Alpha thalassemia trait is when someone has only two out of the normal four alpha globin genes. (nih.gov)
  • Approximately 5% of the world's population carries trait genes for haemoglobin disorders, mainly, sickle-cell disease and thalassaemia. (who.int)
  • A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. (medlineplus.gov)
  • People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (medlineplus.gov)
  • If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. (medlineplus.gov)
  • This condition is called beta thalassemia trait or beta thalassemia minor. (hoacny.com)
  • A simple blood test called Hb electrophoresis or Hb A2 can indicate whether you are a carrier or have a trait of thalassemia minor. (indiatimes.com)
  • a-thalassaemia trait, on the other hand, was diagnosed in five subjects, based on the presence of microcytosis, with normal Hb A 2 and F and normal serum ferritin level (i.e. by exclusion of b- and db-thalassaemia, and iron deficiency as causes of microcytosis). (who.int)
  • We are testing for alpha thalassemia trait. (nih.gov)
  • Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait. (nih.gov)
  • 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)
  • Most alpha-thalassemias are due to deletion mutations, but there are also less common nondeletion mutations ( 5 ). (cdc.gov)
  • Analysis of DNA polymorphisms promises to yield many further population markers, and we report here the distribution of a new alpha-globin gene deletion (-alpha 3.7 III) detected by a restriction enzyme mapping. (ox.ac.uk)
  • In addition, two novel mutations that give rise to α thalassaemia, one deletion resulting in β thalassaemia, and a rare deletion (−− THAI allele) previously unreported in mainland China were detected. (bmj.com)
  • In the SCD patients the frequency of single alpha-gene deletion [‎-alpha/alpha alpha]‎ was 0.346, compared to 0.263 in the Hb AA group. (who.int)
  • Two additional forms of alpha thalassemia are related to a reduced amount of alpha-globin. (medlineplus.gov)
  • this leads to the clinical disease known as alpha thalassemia. (medscape.com)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.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)
  • This condition is called alpha thalassemia major or hydrops fetalis. (hoacny.com)
  • Patients with β thalassaemia major inherit two mutant β globin alleles and develop a fatal anaemia in early childhood if untreated, whereas fetuses with Hb Barts' hydrops fetalis caused by the homozygous α 0 thalassaemia gene (−−/−−) die either in utero or shortly after birth as a result of severe intrauterine anaemia. (bmj.com)
  • In addition, most patients with Hb H, which generally results from the combination of one α + thalassaemia (−α/ or α T α/) and one α 0 thalassaemia (−−/) defect, have moderately severe but variable anaemia, except for the rare case of α 0 thalassaemia in combination with a non-deletional α globin gene mutation, which can result in hydrops fetalis. (bmj.com)
  • 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)
  • Thalassaemia syndromes are inherited defects in the rate of synthesis of one or more of the globin chains of haemoglobin. (who.int)
  • Thalassemia syndromes are caused by an absence or ineffective synthesis of beta globin chains. (biomedcentral.com)
  • Despite a 5% global prevalence, alpha-thalassemia is not a core condition on the United States Recommended Uniform Screening Panel for state newborn screening (NBS) programs. (cdc.gov)
  • This study reports the true prevalence of silent α thalassaemia in the southern China population for the first time. (bmj.com)
  • Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
  • Genetic mutations in the alpha-globin gene cluster on chromosome 16 are responsible for alpha-thalassemia, resulting in inefficient production of red blood cells, which affects organ function and growth and results in anemia and iron overload. (cdc.gov)
  • Alpha-thalassemia is a genetic disorder where there's a deficiency in production of the alpha globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells. (osmosis.org)
  • Thalassaemia is a blood-related, genetic disorder. (indiatimes.com)
  • Thalassemia is a genetic, blood disorder. (indiatimes.com)
  • Simple blood tests can help couples identify the risks of having a child with thalassemia or other genetic disorders. (indiatimes.com)
  • Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. (bmj.com)
  • 6. Progress toward the genetic treatment of the beta-thalassemias. (nih.gov)
  • With a dedicated focus on severe genetic diseases, bluebird has industry-leading programs for sickle cell disease, β-thalassemia and cerebral adrenoleukodystrophy and is advancing research to apply new technologies to these and other diseases. (businesswire.com)
  • The picture shows one example of how alpha thalassemia is inherited. (hoacny.com)
  • Illustration showing an example of how alpha thalassemia is passed down from parent to child. (nih.gov)
  • 1. Gene therapy for homozygous beta-thalassemia. (nih.gov)
  • Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss or alteration of all four alpha-globin alleles. (medlineplus.gov)
  • Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
  • Public health data for the United States are lacking, but in California, 1 in 10,000 newborns has an alpha-thalassemia syndrome ( 4 ). (cdc.gov)
  • Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck Syndrome with coexistent alpha-thalassemia. (stjude.org)
  • This form of thalassemia causes moderate to severe anemia. (hoacny.com)
  • In each year, over 50,000 new patients are born with a severe form of thalassemia (beta-thalassemia major and HbE beta thalassemia) worldwide. (biomedcentral.com)
  • In many Asian countries, the most common form of thalassemia results from the coinheritance of beta thalassemia and HbE. (biomedcentral.com)
  • When Do Symptoms of Alpha-thalassemia Begin? (nih.gov)
  • These individuals typically have no thalassemia-related signs or symptoms. (medlineplus.gov)
  • If a person has one defective alpha gene, they're called a silent carrier, because they don't have symptoms, but can still pass the gene to their children. (osmosis.org)
  • Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. (nih.gov)
  • Alpha thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
  • Thalassemia is an inherited blood disorder that causes your body to produce less hemoglobin than normal. (nih.gov)
  • Alpha thalassemia is a blood disorder. (nih.gov)
  • You may be more likely to have thalassemia based on your family history and genetics and your race or ethnicity. (nih.gov)
  • Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia. (cdc.gov)
  • A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)
  • Regulation of human alpha-globin gene expression and alpha-thalassemia. (medscape.com)
  • We seek to understand how common structural variants in the human alpha globin gene loci affect expression of alpha globin in the vascular endothelium, alter the arterial response to vasoactive stimuli, and modify susceptibility to vascular complications of chronic and infectious diseases. (nih.gov)
  • 2. Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in beta-thalassemia. (nih.gov)
  • 4. Recent advances in globin gene transfer for the treatment of beta-thalassemia and sickle cell anemia. (nih.gov)
  • 8. Globin gene transfer for treatment of the beta-thalassemias and sickle cell disease. (nih.gov)
  • 11. A phase I/II clinical trial of beta-globin gene therapy for beta-thalassemia. (nih.gov)
  • 12. Current status of globin gene therapy for the treatment of beta-thalassaemia. (nih.gov)
  • Nondeletion variants in one or two alleles cause a range of conditions, from alpha thalassemia silent carrier to HbH disease, depending on the allele involved. (medlineplus.gov)
  • If one of the parents is a carrier, the child develops thalassemia minor. (indiatimes.com)
  • If someone in your family has thalassemia, you may be a carrier. (nih.gov)
  • Due to extreme heterogeneity, an uneven frequency of beta thalassemia heterozygote or carrier in the range of 1 and 10% has been reported throughout different parts of India [ 2 ]. (biomedcentral.com)
  • Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
  • Thalassemias are the most common single gene disorders ( 2 ), with approximately 5% of the world's population having an alpha-thalassemia variant ( 3 ). (cdc.gov)
  • The inherited beta thalassemias including sickle cell anemia and hemoglobin E (HbE) disorders are the most frequent single gene disorders globally [ 1 ]. (biomedcentral.com)
  • Melanesians and Polynesians share a unique alpha-thalassemia mutation. (ox.ac.uk)
  • The mutation spectrum of α and β thalassaemia and its constitution were fully described in this area. (bmj.com)
  • In this comprehensive review, the aim is to to depict the epidemiological aspects of thalassemias, mutation profile and current treatment and management practices in the country by sharing the experience of dealing with 1178 cases over 2009-2014 time periods in a specialized thalassemia treatment centre. (biomedcentral.com)
  • A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
  • Standardization of technical and reporting procedures could provide data to better understand the public health impact and clinical outcomes of alpha-thalassemia, ensure appropriate health care, and improve outcomes. (cdc.gov)
  • Despite the fact that Bangladesh lies in the world's thalassemia belt, the information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is lacking. (biomedcentral.com)
  • Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. (cdc.gov)
  • There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
  • Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
  • 9. Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator. (nih.gov)
  • Although alpha-thalassemia is not a core condition of the United States Recommended Uniform Screening Panel* for state newborn screening programs, methodologies used by some newborn screening programs to detect sickle cell disease, which is a core panel condition, also detect a quantitative marker of alpha-thalassemia, hemoglobin (Hb) Bart's, an abnormal type of hemoglobin. (cdc.gov)
  • The percentage of Hb Bart's detected correlates with alpha-thalassemia severity. (cdc.gov)
  • Because screening platforms vary in their resolution and sensitivity for detection and quantification of aberrant hemoglobin species, using a different platform for the first round of screening compared with the second round maximizes the number of persons identified with Hb Bart's levels indicative of alpha-thalassemia. (cdc.gov)
  • Inadequacy of Hb Bart's as an indicator of alpha thalassaemia. (ox.ac.uk)
  • And he'd, he's had a funny electrophoresis, because there was some tiny amounts of a funny haemoglobin, which he'd not seen before, and I was just looking at the correspondence the other day, and I wrote back and said, well, could this be a very badly synthesised alpha chain, let's have a look. (webofstories.com)
  • The magnitude of the HU-related changes was similar for mean corpuscular volume (MCV) (no α-thalassaemia 13 fl and α-thalassaemia 13 fl) and mean corpuscular haemoglobin (MCH) (no α-thalassaemia 4 pg and α-thalassaemia 4 pg) in both groups. (nih.gov)
  • Total haemoglobin increased after HU treatment in both groups, but the increase was smaller and not statistically significant in patients with α-thalassaemia. (nih.gov)
  • The aim in this study was to address this issue, by utilizing electronically measured mean corpuscular volume (MCV), coupled with a battery of confirmatory haemoglobin (Hb) and iron studies [6], to screen and confirm the diagnosis of thalassaemia in an obstetric population attending a major maternity care clinic in central Baghdad. (who.int)
  • Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
  • Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia. (medlineplus.gov)
  • India ranks the list when it comes to thalassaemia. (indiatimes.com)
  • Most information on thalassemia in South Asia comes from studies conducted in India. (biomedcentral.com)
  • The Association of Public Health Laboratories' Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs' alpha-thalassemia screening methodologies and reporting and follow-up practices. (cdc.gov)
  • Survey findings indicated that 41 of 44 responding programs (93%) report some form of alpha-thalassemia results and 57% used a two-method screening protocol. (cdc.gov)
  • To better understand newborn screening programs' alpha-thalassemia screening practices, the Association of Public Health Laboratories' Hemoglobinopathy Workgroup initiated the first nationwide survey of U.S. newborn screening programs in October 2016. (cdc.gov)
  • Screening programmes for thalassaemia, based on the detection of low MCVs, could miss cases of the interaction of alpha and beta thalassaemia. (ox.ac.uk)
  • The knowledge gained in this study will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalassaemia to be designed in this area. (bmj.com)
  • Thalassemia is more prevalent in regions in which malaria is endemic because the RBC phenotype confers some protection against malaria. (medscape.com)
  • Over four million Indians are thalassemia carriers and more than 1, 00,000 are patients. (indiatimes.com)
  • Thalassaemia patients should pursue universal immunisation to prevent exposure from infections. (indiatimes.com)
  • Studies on the efficacy of HU in SCA patients with α-thalassaemia have yielded varying results. (nih.gov)
  • In contrast, HU-related reduction in VOCs was more pronounced in patients with α-thalassaemia (VOC incidence rate ratio HU/placebo: 0.63 for α-thalassaemia and 0.54 for no α-thalassaemia (P for interaction 0.003). (nih.gov)
  • CONCLUSION: Hydroxyurea decreases VOCs in SCA patients with and without α-thalassaemia, and the degree of VOC reduction was more pronounced in the patients with alpha-thalassaemia. (nih.gov)
  • A group of Yemeni patients with sickle-cell disease [‎SCD]‎ and normal Hb AA individuals living in Riyadh were studied to determine the incidence of the alpha-gene molecular defect. (who.int)
  • 14. The challenge of obtaining therapeutic levels of genetically modified hematopoietic stem cells in beta-thalassemia patients. (nih.gov)
  • 20. Impact of β-globin mutations on outcome of matched related donor hematopoietic stem cell transplantation for patients with β-thalassemia major. (nih.gov)
  • The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. (nih.gov)
  • However, NBS methodologies used to detect sickle cell disease, reported by all states, also detect alpha-thalassemia. (cdc.gov)
  • Publication: Alpha-thalassaemia and response to hydroxyurea in sickle cell anaemia. (nih.gov)
  • He began his tenure-track work on endothelial alpha globin in the NHLBI sickle cell branch in 2014. (nih.gov)
  • 17. Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell disease. (nih.gov)
  • This is found frequently in Melanesians and Polynesians but not in five other populations in which alpha-thalassemia is prevalent. (ox.ac.uk)
  • 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)
  • 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)
  • On World Thalassaemia Day, Dr Rajni Khajuria, Lab Director at Igenomix and former researcher at AIIMS, Delhi, shares why it is important to spread awareness about the disease, and take necessary steps. (indiatimes.com)
  • A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (medlineplus.gov)
  • Overall, 11.07% of the population in this area were heterozygous carriers of α and β thalassaemia. (bmj.com)
  • Most conservative estimates suggest that at least 5.2% of the world population (over 360 million) carry a significant hemoglobin variant [ 1 ] and in excess of 100 million beta thalassemia carriers with a global frequency of 1.5% [ 2 ]. (biomedcentral.com)
  • mutations that reduce alpha or beta global chain synthesis. (slideshare.net)
  • Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (ox.ac.uk)
  • Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likely to be a major public health concern in the coming decades in South Asia. (biomedcentral.com)
  • This suggests that the degree of globin chain imbalance is a significant factor in determining the red cell characteristics in heterozygous beta thalassaemia. (ox.ac.uk)
  • The present invention relates to the simultaneous and specific identification of the variant forms of α-thalassemia. (nih.gov)
  • Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China. (bmj.com)
  • The Hb S, alpha- and beta-thalassaemia gene frequency range was 0.005-0.145, 0.01-0.40 and 0.01-0.15 respectively in various areas of Saudi Arabia. (who.int)
  • Muncie HL Jr, Campbell J. Alpha and beta thalassemia. (medscape.com)
  • The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
  • Hemoglobin has two kinds of protein chains: alpha globin and beta globin. (hoacny.com)
  • The other kinds of thalassemia are alpha and beta. (indiatimes.com)
  • How does beta thalassemia develop? (nih.gov)
  • 13. Alpha and beta thalassemia. (nih.gov)